Primary hypergonadotropic hypogonadism-partial alopecia syndrome

MedGen UID:: 388650
•Concept ID:: C2673480
•: Disease or Syndrome

Synonym:	Hypergonadotropic hypogonadism and partial alopecia
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:0009420
OMIM®:	241090
Orphanet:	ORPHA2232

Definition

This syndrome is characterized by primary hypergonadotropic hypogonadism and partial alopecia. [from ORDO]

Clinical features

From HPO

Streak ovary

MedGen UID:: 78597
•Concept ID:: C0266371
•: Congenital Abnormality

A developmental disorder characterized by the progressive loss of primordial germ cells in the developing ovaries of an embryo, leading to hypoplastic ovaries composed of wavy connective tissue with occasional clumps of granulosa cells, and frequently mesonephric or hilar cells.

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Alopecia

MedGen UID:: 7982
•Concept ID:: C0002170
•: Finding

A noncongenital process of hair loss, which may progress to partial or complete baldness.

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Hypergonadotropic hypogonadism

MedGen UID:: 184926
•Concept ID:: C0948896
•: Disease or Syndrome

Reduced function of the gonads (testes in males or ovaries in females) associated with excess pituitary gonadotropin secretion and resulting in delayed sexual development and growth delay.

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