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Hypogonadism
Condition resulting from deficient gonadal functions, such as GAMETOGENESIS and the production of GONADAL STEROID HORMONES. It is characterized by delay in GROWTH, germ cell maturation, and development of secondary sex characteristics. Hypogonadism can be due to a deficiency of GONADOTROPINS (hypogonadotropic hypogonadism) or due to primary gonadal failure (hypergonadotropic hypogonadism).
Year introduced: 1966
Kallmann Syndrome
A genetically heterogeneous disorder caused by hypothalamic GNRH deficiency and OLFACTORY NERVE defects. It is characterized by congenital HYPOGONADOTROPIC HYPOGONADISM and ANOSMIA, possibly with additional midline defects. It can be transmitted as an X-linked (GENETIC DISEASES, X-LINKED), an autosomal dominant, or an autosomal recessive trait.
Year introduced: 1993
Spinocerebellar Degenerations
A heterogenous group of degenerative syndromes marked by progressive cerebellar dysfunction either in isolation or combined with other neurologic manifestations. Sporadic and inherited subtypes occur. Inheritance patterns include autosomal dominant, autosomal recessive, and X-linked.
Year introduced: 2000(1987)
Rud Syndrome [Supplementary Concept]
Date introduced: August 25, 2010
Malouf syndrome [Supplementary Concept]
Myopathy, Cataract, Hypogonadism Syndrome [Supplementary Concept]
Date introduced: November 5, 2012
Idiopathic Hypogonadotropic Hypogonadism [Supplementary Concept]
A hereditary autosomal recessive type of hypogonadism characterized by absent or incomplete sexual maturation by age 18 and low levels of circulating GONADOTROPINS and TESTOSTERONE and no other abnormalities of the hypothalamic-pituitary axis. Nonreproductive phenotypes, such as ANOSMIA; CLEFT PALATE, and SENSORINEURAL HEARING LOSS may also occur. Mutations in the GNRHR gene (gonadotropin-releasing hormone receptor) have been identified for HH7. OMIM: 146110
Leydig Cell Hypoplasia [Supplementary Concept]
mutation in LHCGR
Muscular dystrophy, congenital, infantile with cataract and hypogonadism [Supplementary Concept]
Alopecia hypogonadism extrapyramidal disorder [Supplementary Concept]
Date introduced: June 25, 2010
Woodhouse Sakati syndrome [Supplementary Concept]
Hypogonadism, diabetes mellitus, alopecia, mental retardation, extrapyramidal syndrome, and electrocardiographic abnormalities
Slti Salem syndrome [Supplementary Concept]
Scholte syndrome [Supplementary Concept]
Martsolf syndrome [Supplementary Concept]
Johnson neuroectodermal syndrome [Supplementary Concept]
Cardiomyopathy hypogonadism collagenoma syndrome [Supplementary Concept]
Eunuchism
The state of being a eunuch, a male without TESTES or whose testes failed to develop. It is characterized by the lack of mature male GERM CELLS and TESTICULAR HORMONES.
Leukodystrophy, Hypomyelinating, with Hypodontia and Hypogonadotropic Hypogonadism [Supplementary Concept]
mutation in POLR3A
Hypergonadotropic Hypogonadism And Partial Alopecia [Supplementary Concept]
Hypogonadism and Testicular Atrophy [Supplementary Concept]