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Symptom Checker » Hypogonadism » Kidney stones
 

Hypogonadism and Kidney stones and Tall stature in children
Symptom Checker

Results: Causes of Hypogonadism AND Kidney stones AND Tall stature in children

Note: Do not use for diagnosis; see limitations of results.

Results: 210 causes of Hypogonadism OR Kidney stones OR Tall stature in children

    1. 3-M Syndrome
     A rare genetic condition which is characterized by distinctive physical features and severe growth retardation that starts during the fetal stage. Intelligence is not affected....more »
    2. 46,XX Gonadal dysgenesis epibulbar dermoid
     A rare disorder characterized by gonad abnormalities and an eye disorder called epibulbar dermoid....more »
    3. APECED Syndrome
     APECED is a recessively inherited genetic disease characterized by the presence of two of the following three conditions: impaired parathyroid function, yeast infection (candidiasis) and impaired adrenal gland function (Addison's disease). It is an autoim...more »
    4. Absorptive hypercalciuria syndrome
     A rare disorder involving the excessive absorption of calcium by the intestines which increases the body's calcium levels and inhibits the functioning of the parathyroid gland....more »
    5. Acromegaloid, Cutis Verticis Gyrata, Corneal Leukoma Syndrome
     A rare condition characterized by the association of acromegaly, cutis verticis gyrate and corneal leukoma....more »
    6. Acute Pancreatitis
     Sudden severe inflammation of the pancreas causing digestive complaints....more »
    7. Adams Nance syndrome
     A rare genetic disorder characterized by rapid heartbeat, high blood pressure, small eyes and the presence of excess glycine in the urine....more »
    8. Adenine phosphoribosyltransferase deficiency
     A rare genetic disorder where an enzyme (2, 8-dihydroxyadenine) deficiency results in urinary tract stone formation....more »
    9. Adrenal Cancer
     A malignant cancer that develops in the adrenal gland. The tumor may be nonfunctioning (does not produce hormones) or functioning in which case excessive levels of hormones can cause a variety of symptoms depending on which hormone is involved. Adrenal ho...more »
    10. Adrenal Cortex Neoplasms
     A tumor that develops in the adrenal gland. The tumor may be nonfunctioning (does not produce hormones) or functioning in which case excessive levels of hormones can cause a variety of symptoms depending on which hormone is involved. Adrenal hormones made...more »
    11. Adrenal adenoma, familial
     A benign tumor that develops in the adrenal gland and tends to run in families. The tumor may be nonfunctioning (does not produce hormones) or functioning in which case excessive levels of hormones can cause a variety of symptoms depending on which hormon...more »
    12. Adrenal gland hyperfunction
     Excessive activity of the adrenal gland which causes excessive production of one or more adrenal hormones (aldosterone, corticosteroids, androgenic steroids, epinephrine and norepinephrine). The increased adrenal gland activity may be caused by an adrenal...more »
    13. Adrenal incidentaloma
     A tumor of the adrenal gland that is discovered incidentally while performing an imaging examination for reasons other than an adrenal tumor. The tumor may be asymptomatic or can causes excessive secretion of adrenal hormones and resulting symptoms. The t...more »
    14. Adrenocortical carcinoma
     A condition which is characterized by malignancy which affects the adrenocortex....more »
    15. Alagille Syndrome
     A genetic disorder affecting the liver and characterized by the absence of some or all of the liver bile ducts that transport bile within the liver....more »
    16. Alopecia -- hypogonadism -- extrapyramidal disorder
     A rare syndrome characterized by alopecia, progressive movement problems and a lack of gonadal function which affects puberty....more »
    17. Androgen Insensitivity Syndrome
     Females with male XY genetics but inability to respond to testosterone....more »
    18. Anophthalmia -- hypothalamo-pituitary insufficiency
     A rare syndrome characterized mainly by small or absent eyes and malformations of the hypothalamus and pituitary gland....more »
    19. Anophthalmia -- hypyothalamo-pituitary insufficiency
     A rare syndrome characterized mainly by small or absent eyes and malformations of the hypothalamus and pituitary gland....more »
    20. Anophthalmia -- microcephaly -- hypogonadism
     A rare syndrome characterized mainly by absent eyes, a small head and hypogonadism....more »
    21. Aortic supravalvular stenosis
     A rare congenital condition involving increased intestinal calcium absorption and characterized by development delay, distinctive facial features, small nails and short stature....more »
    22. Aromatase deficiency
     A congenital deficiency of the enzyme called aromatase which is needed to convert androgens to estrogens....more »
    23. Autoimmune Hypophysitis
     Inflammation of part of the pituitary gland due to an autoimmune process resulting in impaired pituitary hormone production. The range and severity of symptoms is variable depending on the degree of damage to the pituitary gland....more »
    24. Autosomal dominant polycystic kidney disease
     Genetic kidney disease causing kidney cysts....more »
    25. Bardet-Biedl Syndrome
     A rare genetic disorder characterized by mental retardation, obesity, polydactyly and retinal pigmentation as well as other abnormalities....more »
    26. Bardet-Biedl syndrome, type 1
     A rare genetic disorder characterized by mental retardation, obesity, polydactyly and retinal pigmentation as well as other abnormalities. Type 1 is caused by a defect in chromosome 11q13....more »
    27. Bardet-Biedl syndrome, type 10
     A rare genetic disorder characterized by mental retardation, obesity, polydactyly and retinal pigmentation as well as other abnormalities. Type 10 is caused by a defect in chromosome 12q....more »
    28. Bardet-Biedl syndrome, type 11
     A rare genetic disorder characterized by mental retardation, obesity, polydactyly and retinal pigmentation as well as other abnormalities. Type 11 is caused by a defect in chromosome 9q33.1....more »
    29. Bardet-Biedl syndrome, type 12
     A rare genetic disorder characterized by mental retardation, obesity, polydactyly and retinal pigmentation as well as other abnormalities. Type 12 is caused by a defect in chromosome 4q27....more »
    30. Bardet-Biedl syndrome, type 2
     A rare genetic disorder characterized by mental retardation, obesity, polydactyly and retinal pigmentation as well as other abnormalities. Type 2 is caused by a defect in chromosome 16q21....more »
    31. Bardet-Biedl syndrome, type 3
     A rare genetic disorder characterized by mental retardation, obesity, polydactyly and retinal pigmentation as well as other abnormalities. Type 3 is caused by a defect in chromosome 3p12-q13....more »
    32. Bardet-Biedl syndrome, type 4
     A rare genetic disorder characterized by mental retardation, obesity, polydactyly and retinal pigmentation as well as other abnormalities. Type 4 is caused by a defect in chromosome 15q22.3....more »
    33. Bardet-Biedl syndrome, type 5
     A rare genetic disorder characterized by mental retardation, obesity, polydactyly and retinal pigmentation as well as other abnormalities. Type 5 is caused by a defect in chromosome 2q31....more »
    34. Bardet-Biedl syndrome, type 6
     A rare genetic disorder characterized by mental retardation, obesity, polydactyly and retinal pigmentation as well as other abnormalities. Type 6 is caused by a defect in chromosome 20p12....more »
    35. Bardet-Biedl syndrome, type 7
     A rare genetic disorder characterized by mental retardation, obesity, polydactyly and retinal pigmentation as well as other abnormalities. Type 7 is caused by a defect in chromosome 4q27....more »
    36. Bardet-Biedl syndrome, type 8
     A rare genetic disorder characterized by mental retardation, obesity, polydactyly and retinal pigmentation as well as other abnormalities. Type 8 is caused by a defect in chromosome 14q32.11....more »
    37. Bardet-Biedl syndrome, type 9
     A rare genetic disorder characterized by mental retardation, obesity, polydactyly and retinal pigmentation as well as other abnormalities. Type 9 is caused by a defect in chromosome 7p14....more »
    38. Beckwith-Wiedemann Syndrome
     A rare genetic disorder characterized by macroglossia, omphalocele, macrosomia and ear creases....more »
    39. Berylliosis
     A condition that results from inhalation of beryllium in to form of dust or fumes. The lungs, skin eyes or blood may be affected and the affects can occur immediately or after long term exposure....more »
    40. Borjeson Syndrome
     A rare genetic disorder characterized by severe mental deficiency, large ears, hypogonadism and other abnormalities....more »
    41. Borjeson-Forssman-Lehmann Syndrome
     A rare genetic disorder characterized by severe mental deficiency, large ears, hypogonadism and other abnormalities....more »
    42. Bosma-Henkin-Christiansen syndrome
     A rare syndrome characterized mainly by a reduced sense of smell, an underdeveloped nose and hypogonadism....more »
    43. Bright's Disease
     A condition where the parts of the kidneys that are responsible for filtering become inflamed and results in blood and proteins accidentally leaking into the urine. The condition can occur after certain infections and serious kidney dysfunction can result...more »
    44. CCFDN
     A rare, recessively inherited syndrome characterized by cataracts during infancy, unusual facial appearance and neuropathy....more »
    45. CDG syndrome type 1A
     A very rare inherited metabolic disorder where defective carbohydrate compounds are attached to glycoproteins and thus impairing glycoprotein function. Type 1A involves a phosphomannomutase enzyme defect and affects most body systems especially the nervou...more »
    46. CDG syndrome type I
     A rare genetic disorder where the body is unable to synthesize glycoproteins which results in multisystem problems....more »
    47. Camera-Marugo-Cohen syndrome
     A rare syndrome characterized mainly by mental retardation, muscle weakness, obesity and an asymmetrical body....more »
    48. Camurati-Engelmann Disease
     A rare genetic connective tissue disorder characterized by diaphyseal dysplasia, muscle weakness and leg pain....more »
    49. Cardiomyopathy -- hypogonadism -- metabolic anomalies
     A rare syndrome characterized mainly by heart muscle disease, hypogonadism, blindness, deafness and metabolic anomalies. Puberty was normal despite the hypogonadism....more »
    50. Carpenter syndrome
     A rare genetic disorder characterized by premature closing of skull bones, craniofacial abnormalities, heart defects, growth retardation and other disorders....more »
    51. Cataract deafness hypogonadism
     A very rare syndrome characterized mainly by deafness, cataracts and a deficiency of sex hormone production....more »
    52. Cephalopolysyndactyly
     A rare genetic disorder characterized by premature closing of skull bones and craniofacial abnormalities, finger and toe abnormalities. The type and severity of symptoms is variable with many cases remaining undiagnosed because their condition is relative...more »
    53. Cholestatic jaundice -renal tubular insufficiency
     A very rare syndrome characterized by liver and kidney problems....more »
    54. Chromosome 13p duplication
     A rare chromosomal disorder where duplication of a portion of chromosome 13 causes various abnormalities such as mental retardation, short stature, facial dysmorphism, delayed puberty and heart defects....more »
    55. Chromosome 15 Ring
     A rare chromosomal disorder where genetic material from one or both ends of chromosome 15 is missing and the two broken ends have rejoined to form a ring. The resulting type and severity of symptoms is determined by the amount and location of genetic mate...more »
    56. Chromosome 15q duplication syndrome
     A rare chromosomal disorder involving an extra copy of genetic material from the long arm of chromosome 15. The type and severity of symptoms are determined by the amount and location of the duplicated genetic material....more »
    57. Chromosome 15q, partial deletion
     A rare chromosomal disorder involving deletion of genetic material from the long arm of chromosome 15. The type and severity of symptoms are determined by the amount and location of the deleted genetic material....more »
    58. Chromosome 15q, trisomy
     A rare chromosomal disorder involving an extra copy of genetic material from the long arm of chromosome 15. The type and severity of symptoms are determined by the amount and location of the duplicated genetic material....more »
    59. Chromosome 3, monosomy 3p
     A rare chromosomal disorder where a portion of chromosome 3 is absent and is characterized by mental and growth deficiency, drooping upper eyelid and polydactyly....more »
    60. Chromosome 3, trisomy 3p
     A rare chromosomal disorder where a portion of the short arm (p) of chromosome 3 is duplicated so there is three copies of it rather than the normal two....more »
    61. Chromosome 6p deletion syndrome
     A rare chromosomal disorder where part or all of the short arm (p) of chromosome 6 is deleted resulting in various abnormalities which are determined by the size of the deleted portion....more »
    62. Chronic liver disease
     Any form of chronic liver disease...more »
    63. Cirrhosis of liver
     Chronic liver disease wherein normal liver parenchyma is replaced by fibrous tissue....more »
    64. Classic Distal Renal Tubular Acidosis
     A condition which is characterized by the formation of an acidosis due to a problem with the renal distal tubule...more »
    65. Congenital Disorders of Glycosylation Type Ia
     A very rare inherited metabolic disorder where defective carbohydrate compounds are attached to glycoproteins and thus impairing glycoprotein function. Type 1A involves a phosphomannomutase enzyme defect and affects most body systems especially the nervou...more »
    66. Congenital disorder of glycosylation type 1A
     A very rare inherited metabolic disorder where defective carbohydrate compounds are attached to glycoproteins and thus impairing glycoprotein function. Type 1A involves a phosphomannomutase enzyme defect and affects most body systems especially the nervou...more »
    67. Congenital disorder of glycosylation type 1K
     Congenital disorders of glycosylation is a group of very rare inherited metabolic disorder where defective carbohydrate compounds are attached to glycoproteins and thus impairing glycoprotein function. Type Ik is caused by a defect on chromosome 16p13.3 a...more »
    68. Congenital sucrose-isomaltose malabsorption
     A rare disorder where a congenital deficiency of an enzyme (sucrase-isomaltase) prevents the absorption of sucrase and isomaltose consumed in the diet....more »
    69. Crohn's disease
     Crohn's disease causes inflammation of the digestive system. It is one of a group of diseases called inflammatory bowel disease. The disease can affect any area from the mouth to the anus. It often affects the lower part of the small intestine called the ...more »
    70. Crystal deposit disease
     A group of diseases characterized by the deposit of crystals in body tissues. Some examples of such disorders includes scleroderma, dermatomyositis, arthritis and kidney disease. The severity and type of symptoms depend on the nature and location of the c...more »
    71. Culler-Jones syndrome
     A very rare syndrome characterized mainly by hypopituitarism (low pituitary hormone level) which affects other hormone levels and an extra little finger....more »
    72. Cushing's syndrome
     A rare syndrome where excessive secretion of corticosteroids by the adrenal cortex leads to a variety of symptoms. Hormone-secreting adrenal or pituitary tumors are often the cause of the excessive corticosteroid secretion....more »
    73. Cystinuria
     A rare inherited condition characterized by the abnormal transport of various amino acids (cystine, lysine, arginine, ornithine) resulting in excess amounts in the urinary system where it can form stones....more »
    74. Cystitis
     Bladder infection or inflammation...more »
    75. De Sanctis-Cacchione syndrome
     A rare genetic ectodermal disorder characterized by sunlight sensitivity, skin atrophy and pigmentation and skin tumors as well neurologic involvement....more »
    76. Deafness -- cataracts -- skeletal anomalies
     A rare disorder characterized by deafness, cataracts and skeletal abnormalities as well as other anomalies....more »
    77. Dehydration
     Loss of fluids in the body...more »
    78. Deletion 3p
     A rare chromosomal disorder where a portion of chromosome 3 is absent and is characterized by mental and growth deficiency, drooping upper eyelid and extra digits....more »
    79. Dent's disease
     A rare kidney disease inherited in a X-linked manner. It involves kidney tubule damage which results in progressive kidney dysfunction. There are two types of Dent's disease and they differ in the origin of the genetic defect....more »
    80. FLOTCH syndrome
     A very rare syndrome characterized mainly by kidney stones, completely white nails and cysts that form in oil producing areas of skin....more »
    81. Fibromatosis multiple non ossifying
     A very rare syndrome characterized mainly by bone abnormalities which causes the bones to fracture easily....more »
    82. Fragile-X Syndrome
     A rare inherited characterized by various physical anomalies as well as mental retardation. The symptoms are milder in females....more »
    83. Freire-Maia syndrome
     An extremely rare syndrome characterized by tooth, hair and limb abnormalities. The abnormalities can be quite severe in some cases. The parents may have been related in the reported cases....more »
    84. Friedel Heid Grosshans syndrome
     A very rare syndrome characterized mainly by kidney stones, completely white nails and cysts that form in oil producing areas of skin....more »
    85. Functioning pancreatic endocrine tumor
     Tumors that develop in the pancreas and cause excessive secretion of one or more pancreatic hormones such as insulin, somatostatin, glucagons, gastrin, ACTH (corticosteroids) and vasoactive intestinal peptidase....more »
    86. Gloomy syndrome
     A rare genetic condition which is characterized by distinctive physical features and severe growth retardation that starts during the fetal stage. Intelligence is not affected....more »
    87. Goodpasture syndrome
     A rare disease involving inflammation of membranes in the lung and kidneys....more »
    88. Gorlin-Bushkell-Jensen syndrome
     A rare disorder characterized by the development of numerous sebaceous cysts (mainly on the back, chest, arms, thighs and scrotum) as well as kidney stones and white nails....more »
    89. Grahmann's syndrome
     Abnormal development of the part of the brain called the diencephalon which in turn affects the pituitary gland. The main manifestations are impaired sexual development, obesity and periodic psychotic episodes....more »
    90. Greig Cephalopolysyndactyly Syndrome
     A rare genetic disorder characterized by premature closing of skull bones and craniofacial abnormalities, finger and toe abnormalities....more »
    91. Harper dwarfism
     A rare inherited disorder involving a range of abnormalities. It is a variant of the Seckel syndrome....more »
    92. Heart attack
     Serious and often fatal acute heart condition...more »
    93. Heat exhaustion
     Overheating of the body with exhaustion or collapse...more »
    94. Hematochromatosis
     Hemochromatosis is the abnormal accumulation of iron in parenchymal organs, leading to organ toxicity. It is the most common inherited liver disease in whites and the most common autosomal recessive genetic disorder....more »
    95. Hemorrhage
     Bleeding of any type (especially when referring to severe bleeding)...more »
    96. Homocystinuria
     A rare inherited metabolic disorder involving the amino acid methionine and resulting in a harmful accumulation of homocysteine in the body....more »
    97. Human carcinogen -- Cadmium
     Cadmium is deemed to be carcinogenic to humans. The carcinogenicity of the substance may be influenced by the nature (e.g. inhalation, ingestion, skin contact), duration and level of exposure....more »
    98. Hydronephrosis congenital
     A rare kidney disorder that is present at birth and involves enlargement of the part of the ureter closest to the kidney due to obstruction of the flow of urine out of the kidney. The severity of the condition is determined by the degree of obstruction....more »
    99. Hyperadrenalism
     Excessive levels of adrenal hormones in the body. Symptoms depend on which hormone is involved and the degree of involvement. Adrenal hormones are aldosterone, corticosteroids, androgenic steroids, epinephrine and norepinephrine....more »
    100. Hyperparathyroidism
     Increased secretion of parathyroid hormone from the parathyroid glands....more »
    101. Hyperparathyroidism, primary
     A rare genetic disorder where excessive activity of the parathyroid gland causes increased blood calcium levels which can cause various problems....more »
    102. Hyperpigmentation, Cutaneous, With Hypertrichosis, Hepatosplenomegaly, Heart Anomalies, Hearing Loss, And Hypogonadism
     A rare syndrome characterized by various skin and nail anomalies as well as other problems....more »
    103. Hypersecretion of growth hormone
    104. Hypertension
     High blood pressure...more »
    105. Hyperthyroidism -- Teratogenic Agent
     There is strong evidence to indicate that the development of hyperthyroidism during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by th...more »
    106. Hyperuricaemia
    107. Hypervitaminoses A and D
     The excessive physiological effect of vitamin A or D cause by excessive intake of the vitamins...more »
    108. Hypogonadism -- mitral valve prolapse -- mental retardation
     A very rare syndrome characterized mainly by a heart disorder, hypogonadism and mental retardation....more »
    109. Hypogonadism, primary -- partial alopecia
     A very rare syndrome characterized mainly by hypogonadism and the presence of hair in the middle of the scalp only....more »
    110. Hypogonadotropic hypogonadism alopecia
     A very rare syndrome characterized by partial alopecia and lack of secondary sex hormone production....more »
    111. Kallmann Syndrome
     A rare inherited condition characterized by hypogonadism, eunuchoidism and impaired or absent sense of smell. The condition occurs as a result of failure of a part of the hypothalamus which results in hormonal imbalance....more »
    112. Kelley-Seegmiller syndrome
     A rare genetic disorder characterized by the formation of stones in the urinary tract, early-onset gout and mild neurological symptoms. It is caused by a partial deficiency of hypoxanyhine-guanine phosphoribosyl transferase....more »
    113. Keratoderma -- epithelioma -- dental abnormalities- hypogonadism
     A rare disorder characterized by skin and dental abnormalities as well as hypogonadism....more »
    114. Klinefelter syndrome
     A genetic condition where males have at least one extra X chromosome or extra copies of both the X and Y chromosomes in each cell. Normally male cells contain one X and one Y chromosome in each cell. The condition is not inherited but is a result of probl...more »
    115. Launois syndrome
     Excessive body growth due to pituitary gland overactivity which causes excessive growth hormone production prior to puberty....more »
    116. Laurence-Moon Syndrome
     A rare inherited disorder characterized by vision loss, impaired hormone production, mental retardation and spastic paraplegia....more »
    117. Lesch-Nyhan syndrome
     Inherited biochemical disorder of purine metabolism caused by the virtual absence of an enzyme called hypoxanthine-guanine phosphoribosyltransferase or HPRT....more »
    118. Leukomelanoderma -- Infantalism -- Mental Retardation -- Hypodontia -- Hypotrichosis
     A rare syndrome characterized by poor growth, mental retardation and hair, tooth and skin anomalies....more »
    119. Leukonychia totalis -- trichilemmal cysts -- cilliary dystrophy
     A very rare syndrome characterized mainly by kidney stones, completely white nails and cysts that form in oil producing areas of skin....more »
    120. Leydig cells hypoplasia
     A condition resulting from reduced or absent functioning of Leydig cells which leads to insufficient production of the male hormone androgen which can cause problems with sex differentiation in males at puberty. The severity of symptoms varies depending o...more »
    121. Leydig cells hypoplasia, type I
     A condition resulting from reduced or absent functioning of Leydig cells which leads to insufficient production of the male hormone androgen which can cause problems with sex differentiation in males at puberty. The severity of symptoms varies depending o...more »
    122. Leydig cells hypoplasia, type II
     A condition resulting from reduced or absent functioning of Leydig cells which leads to insufficient production of the male hormone androgen which can cause problems with sex differentiation in males at puberty. The severity of symptoms varies depending o...more »
    123. Luteinizing hormone releasing hormone, deficiency of, with ataxia
     A very rare syndrome characterized mainly by insufficient sex hormone production and impaired balance and coordination due to nervous system dysfunction....more »
    124. Marfan syndrome
     A genetic connective tissue disorder involving a defect of chromosome 15q21.1 which affects the production of the fibrillin needed to make connective tissue....more »
    125. McCune-Albright Syndrome
     A rare genetic multisystem disorder characterized by abnormal skin pigmentation and endocrine gland dysfunction and replacement of parts of bone tissue with fibrous material....more »
    126. Medullary Sponge Kidney
     A rare inherited disorder where the tubes in the kidneys that collect urine are wider than normal....more »
    127. Meier-Blumberg-Imahorn syndrome
     A very rare syndrome characterized mainly by high urine calcium level and eye problems....more »
    128. Meier-Rotschild syndrome
     A rare disorder characterized mainly by short stature, small ears and absent kneecaps....more »
    129. Mental retardation -- dysmorphism -- hypogonadism -- diabetes
     A very rare syndrome characterized mainly by mental retardation, hypogonadism, diabetes and facial and skull abnormalities....more »
    130. Mental retardation -- epileptic seizures -- hypogonadism -- hypogenitalism -microcephaly -- obesity
     A very rare syndrome characterized mainly by mental deficiency, epilepsy, small head, small genitals and obesity. Death occurs within the first two years of life....more »
    131. Mental retardation X-linked syndromic 7
     A very rare syndrome characterized mainly by mental retardation, obesity, hypogonadism and tapered fingers....more »
    132. Mental retardation, X-linked -- hypogonadism -- ichthyosis -- obesity -- short stature
     A rare X-linked disorder characterized by mental retardation, obesity, short stature, hypogonadism and a skin disorder. The disorder is inherited in a X-linked manner which means that only males display the full range of symptoms whereas female carriers m...more »
    133. Mental retardation, X-linked -- hypotonic face
     A group of syndromes characterized mainly by mental retardation and reduced tone in the facial muscles. Various other abnormalities may be present....more »
    134. Mental retardation, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, and obesity
     A very rare syndrome characterized mainly by mental deficiency, epilepsy, small head, small genitals and obesity. Death occurs within the first two years of life....more »
    135. Methazolamide -- Teratogenic Agent
     There is evidence to indicate that exposure to Methazolamide during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of expos...more »
    136. Microcephaly -- hypergonadotropic hypogonadism -- short stature
     A very rare syndrome characterized mainly by a small head, short stature and hypogonadism....more »
    137. Milk-Alkali syndrome
     Milk-Alkali syndrome is a condition where the body is too alkaline and the blood contains too much calcium which results in impaired kidney function. It can be caused by drinking large quantities of milk or using too many alkaline antacid remedies. High v...more »
    138. Moebius axonal neuropathy -- hypogonadism
     A very rare syndrome characterized mainly by facial paralysis due to problems with 6th and 7th nerve development (Moebius sequence) and hypogonadism....more »
    139. Molybdenum, cofactor deficiency, inherited
     A rare metabolic disorder characterized by excessive levels of xanthine in the urine. It is caused by a deficiency of the enzymes xanthine dehydrogenase (as in xanthinuria type I) and enzyme aldehyde oxidase (as in xanthinuria type II) as well as sulfite ...more »
    140. Mosse syndrome
     A condition involving the association of liver cirrhosis with polycythemia which is a chronic myeloproliferative disorder characterized by the excessive production of mainly red blood cells by the bone marrow....more »
    141. Multiple endocrine abnormalities -- adenylyl cyclase dysfunction
     A rare syndrome characterized by an enzyme defect (adenylyl cyclase) and a number of endocrine abnormalities....more »
    142. Multiple endocrine neoplasia
     A group of conditions that is characterised by the hyperplasia and hyperfunction of two or more glands of the endocrine system...more »
    143. Multiple endocrine neoplasia type 1
     Rare inherited disease causing tumors in multiple glands...more »
    144. Multiple endocrine neoplasia type 2
     Rare inherited disease causing tumors in multiple glands...more »
    145. Multiple pterygium syndrome
     A very rare disorder characterized by webbing of various parts of the body, contractures, short stature, fusion of neck vertebrae and facial anomalies....more »
    146. Muscular dystrophy -- congenital infantile cataract -- hypogonadism
     A very rare syndrome characterized mainly by muscle wasting, infantile cataracts and hypogonadism....more »
    147. Muscular dystrophy, congenital, infantile with cataract -- hypogonadism
     A very rare syndrome characterized mainly by muscle wasting, infantile cataracts and hypogonadism....more »
    148. Myhre-Ruvalcaba-Kelley syndrome
     A rare recessively inherited X-linked disorder characterized by hearing impairment from birth and hypogonadism....more »
    149. Nephrocalcinosis
     A condition characterized by calcium salt deposits in the kidneys which may affect it's ability to function. The condition refers to a generally increased level of calcium in the kidneys rather than actual localized deposits such as occurs in kidney stone...more »
    150. Nevi -- atrial myxoma -- myxoid neurofibromata -- ephelides
     A very rare syndrome characterized by spotty pigmentation on the skin and the development of multiple benign tumors (myxoma) that can occur just about anywhere in the body but mainly in the skin, breast and heart and endocrine glands such as the thyroid a...more »
    151. Oxalosis
     A rare inherited metabolic disorder where excess oxalic acid forms crystals which make up urinary stones. In type I primary hyperoxaluria there is a deficiency of peroxisomal alanine-glyoxalate aminotransferase and type II involves a deficiency of the enz...more »
    152. Oxalosis, Type II
     A rare inherited metabolic disorder where excess oxalic acid forms crystals which make up urinary stones. In type I primary hyperoxaluria there is a deficiency of the enzyme glyoxylate reductase/hydroxypyruvate reductase....more »
    153. Oxalosis, type I
     A rare inherited metabolic disorder where excess oxalic acid forms crystals which make up urinary stones. In type I primary hyperoxaluria there is a deficiency of alanine-glyoxalate aminotransferase....more »
    154. Pancolitis
     Pancolitis is also known as ulcerative colitis which is an idiopathic chronicinflammatory disorder of the colon and rectum and involves the entire thickness of the colon....more »
    155. Parathyroid Cancer
     A condition that is characterised by malignancy that affects the parathyroid...more »
    156. Parathyroid cancer, adult
     A rare cancer that can occur in the parathyroid gland in adults. The parathyroid glands regulate body calcium levels so cancer of the gland upsets the body's calcium balance causing muscle, bone and other symptoms....more »
    157. Parathyroid hyperplasia
     A condition which is characterized by hyperplasia of the thyroid gland...more »
    158. Phosphoribosylpyrophosphate synthetase superactivity
     A rare X-linked metabolic disorder caused by the excessive activity of a particular enzyme (Phosphoribosylpyrophosphate synthetase). The main manifestations are increased production of uric acid and purine nucleotide....more »
    159. Polycystic kidney disease
     Genetic kidney disease causing kidney cysts....more »
    160. Polycystic kidney disease, adult type
     A rare condition where cysts in the kidney grow and cause the kidney to become larger and reduce it's ability to function. PKD 2 is an autosomal dominant form of the disease and differs from PKD 1 in that it is less severe and is caused by a mutation in a...more »
    161. Polycystic kidney disease, type 2
     A rare condition where cysts in the kidney grow and cause the kidney to become larger and reduce it's ability to function. This adult form of the condition is milder than the infantile form....more »
    162. Prader-Willi syndrome
     A rare genetic disorder characterized by reduced muscle tone, obesity and small hands and feet....more »
    163. Primary hyperoxaluria type 2
     A rare inherited inborn metabolic disorder characterized by excessive amounts of oxalate in the urine and deposits of oxalate in the kidneys which leads to progressive kidney failure. There are two subtypes of Oxalosis, each with a different origin for th...more »
    164. Proximal Renal Tubular Acidosis
     This is a condition that is characterised by a metabolic acidosis state caused by impairment of a persons renal function...more »
    165. Renal Magnesium Wasting -- hypercalciuria -- nephrocalcinosis -- Ocular disorders
     A rare form of progressive kidney disease associated with eye problems....more »
    166. Renal Tubular Acidosis
     A rare disorder where the kidneys secrete too much hydrogen and don't reabsorb enough bicarbonate which can result in symptoms such as excessive blood acidity and loss of potassium....more »
    167. Renal hypomagnesemia -- hypercalciuria -- nephrocalcinosis
     A rare form of kidney disease which is progressive....more »
    168. Renal hypouricemia
     A rare inherited disorder characterized by low blood uric acid level due to kidney dysfunction. The kidney tubules fail to absorb urate normally....more »
    169. Renpenning syndrome
     A very rare genetic disorder that affects males and is characterized mainly by mental retardation and facial anomalies....more »
    170. Renpenning syndrome 1
     A very rare genetic disorder that affects males and is characterized mainly by mental retardation and facial anomalies....more »
    171. Resistance to LH (luteinizing hormone)
     A genetic abnormality where the body is unable to respond to luteinizing hormone which affects ovarian and testicular function....more »
    172. Retinopathy pigmentary -- intellectual deficit
     A rare syndrome characterized by eye disease and mental retardation....more »
    173. Retinopathy pigmentary mental retardation
     A rare genetic condition characterized by degeneration of retinal pigments, cataracts, small head and mental retardation....more »
    174. Retinopathy, pigmentary and mental retardation
     A rare syndrome characterized by eye disease and mental retardation....more »
    175. Rett-like syndrome
     A very rare syndrome characterized mainly by neurological problems such as mental retardation and seizures as well as various physical anomalies....more »
    176. Ruvalcaba Churesigaew Myhre syndrome
     A very rare syndrome characterized by early-onset senility, hypogonadism, hardening of blood vessels and thinning of the skin....more »
    177. Ruvalcaba-Churesigaew-Myhre syndrom
     A very rare syndrome characterized by early-onset senility, hypogonadism, hardening of blood vessels and thinning of the skin....more »
    178. Salti-Salem syndrome
     A very rare syndrome characterized by partial alopecia and lack of secondary sex hormone production....more »
    179. Say-Barber-Miller syndrome
     A very rare syndrome characterized mainly by immune system problems and a small head....more »
    180. Schaap-Taylor-Baraitser syndrome
     A very rare syndrome characterized mainly by deafness, cataracts and a deficiency of sex hormone production....more »
    181. Schafer syndrome
     A disorder characterized mainly by thickened skin on the palms and soles, white patches in mouth, mental and growth retardation and hair, nail and eye abnormalities....more »
    182. Scholte syndrome
     A very rare syndrome characterized mainly by premature balding, dislocated kneecap, hypogonadism and small hands and feet....more »
    183. Secondary hyperparathyroidism
     A condition which is characterized by the occurrence of hyperparathyroidism due to a secondary condition affects the thyroid...more »
    184. Sheehan Syndrome
     A rare condition that occurs in women who suffer a severe uterine hemorrhage during childbirth. The resulting blood loss may damage the pituitary gland and result in hypopituitarism....more »
    185. Shock
     Severe condition from reduced blood circulation...more »
    186. Short Bowel Syndrome
     Disorder of shortened bowel usually from bowel surgery....more »
    187. Sohval-Soffer syndrome
     A very rare syndrome characterized mainly by mental retardation, hypogonadism and skeletal abnormalities....more »
    188. Spastic paraparesis deafness
     A syndrome that is characterized with spastic paraparesis and deafness....more »
    189. Spastic paraplegia with Kallmann syndrome
     A very rare genetic disorder characterized mainly by mild spasticity and weakness of the lower legs as well as lack of sex hormone production and an inability to smell....more »
    190. Steatocystoma multiplex
     A rare inherited disorder characterized by numerous skin cysts that may contain a thick substance called sebum. The cysts occur mainly on the chest, abdomen and front of neck....more »
    191. Sucrase-isomaltase malabsorption, congenital
     A rare disorder where a congenital deficiency of an enzyme (sucrase-isomaltase) prevents the absorption of sucrose and isomaltose consumed in the diet....more »
    192. Sucrase-isomaltose malabsorption, congenital
     A rare disorder where a congenital deficiency of an enzyme (sucrase-isomaltase) prevents the absorption of sucrose and isomaltose consumed in the diet....more »
    193. Tetramelic deficiencies -- Ectodermal dysplasia -- deformed ears -- other abnormalities
     An extremely rare syndrome characterized by tooth, hair and limb abnormalities. The abnormalities can be quite severe in some cases. The parents may have been related in the reported cases....more »
    194. The Primary Hyperoxalurias
     An excess of oxalates in the urine...more »
    195. Turner Syndrome
     Rare chromosome syndrome with one X but no second X or Y chromosome....more »
    196. Urinary stones
     Stones in the urinary tract or bladder....more »
    197. Vagneur Triolle Ripert syndrome
     A condition that is characterised by lymphoedema of the lower extremities and recurrent respiratory system problems...more »
    198. Vasquez Hurst Sotos syndrome
     A rare genetic disorder characterized by underdeveloped genitals, obesity, mental retardation and skeletal abnormalities....more »
    199. Vitamin D toxicity
     Excessive consumption of vitamin D can cause symptoms of toxicity....more »
    200. Weaver Syndrome
     A syndrome that is considered a variant of the Marshall-Smith syndrome...more »
    201. Werner syndrome
     A form of premature aging where sufferers start aging during adolescence or soon after and appear old by the time they reach their 30's or 40's. Milder forms of the condition may also occur....more »
    202. Wilson's Disease
     Wilson disease, or hepatolenticular degeneration, is a neurodegenerative disease of copper metabolism....more »
    203. X chromosome, duplication Xq13 1 q21 1
     A condition characterised by the duplication of the long arm of chromosome X....more »
    204. X chromosome, trisomy 26-28
     A condition characterised by the duplication of the long arm of chromosome X....more »
    205. X chromosome, trisomy Xp3
     A condition characterised by the duplication of the long arm of chromosome X....more »
    206. X chromosome, trisomy Xpter Xq13
     A condition characterised by the duplication of the long arm of chromosome X....more »
    207. X chromosome, trisomy Xq
     A condition characterised by the duplication of the long arm of chromosome X....more »
    208. X chromosome, trisomy Xq25
     A condition characterised by the duplication of the long arm of chromosome X....more »
    209. Xanthine oxidase deficiency type I
     A rare metabolic disorder characterized by excessive levels of xanthine in the urine. Type I xanthinuria is caused by a deficiency of the enzyme xanthine dehydrogenase which is needed to metabolize xanthine. The metabolic abnormality primarily causes kidn...more »
    210. Zinc deficiency
     When there is a deficiency of zinc in an individuals body...more »

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