Hypergonadotropic hypogonadism-cataract syndrome

MedGen UID:: 344596
•Concept ID:: C1855859
•: Disease or Syndrome

Synonyms:	Cataracts and testicular failure; Hypogonadism cataract syndrome; Lubinsky syndrome
SNOMED CT:	Hypergonadotropic hypogonadism with cataract syndrome (721233005); Lubinsky syndrome (721233005); Cataract and testicular failure syndrome (721233005)
Modes of inheritance:	Autosomal recessive inheritance MedGen UID: 141025 •Concept ID: C0441748 • Intellectual Product Source: Orphanet A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Autosomal recessive inheritance (Orphanet)

Monarch Initiative:	MONDO:0009417
OMIM®:	240950
Orphanet:	ORPHA2410

Definition

Syndrome with the association of hypergonadotropic hypogonadism and cataracts with onset during adolescence. It has been described in three brothers from a consanguineous family. An autosomal recessive mode of transmission appears likely. [from SNOMEDCT_US]

Clinical features

From HPO

Infertility

MedGen UID:: 43876
•Concept ID:: C0021359
•: Finding

Inability to conceive for at least one year after trying and having unprotected sex. Causes of female infertility include endometriosis, fallopian tubes obstruction, and polycystic ovary syndrome. Causes of male infertility include abnormal sperm production or function, blockage of the epididymis, blockage of the ejaculatory ducts, hypospadias, exposure to pesticides, and health related issues.

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Hypogonadism

MedGen UID:: 5711
•Concept ID:: C0020619
•: Disease or Syndrome

A decreased functionality of the gonad.

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Male hypogonadism

MedGen UID:: 57480
•Concept ID:: C0151721
•: Disease or Syndrome

Familial male hypogonadism is a highly heterogeneous category from which some disorders such as Reifenstein syndrome (312300), Kallmann syndrome (see 308700), isolated gonadotropin deficiency, and some other entities can be separated. The presence of an autosomal recessive form is suggested by the occurrence of parental consanguinity (Nowakowski and Lenz, 1961).

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Elevated circulating follicle stimulating hormone level