Mullerian aplasia and hyperandrogenism

MedGen UID:: 390686
•Concept ID:: C2675014
•: Disease or Syndrome

Synonym:	MULLERIAN DUCT FAILURE AND HYPERANDROGENISM
Modes of inheritance:	Autosomal dominant inheritance MedGen UID: 141047 •Concept ID: C0443147 • 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 heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Not genetically inherited MedGen UID: 988794 •Concept ID: CN307044 • Finding Source: Orphanet clinical entity without genetic inheritance. See: This record Autosomal dominant inheritance (Orphanet) Not genetically inherited (Orphanet)

Gene (location): Gene(s) directly associated with this condition or phenotype.	WNT4 (1p36.12)

Monarch Initiative:	MONDO:0008019
OMIM®:	158330
Orphanet:	ORPHA247768

Definition

Müllerian aplasia and hyperandrogenism is a condition that affects the reproductive system in females. This condition is caused by abnormal development of the Müllerian ducts, which are structures in the embryo that develop into the uterus, fallopian tubes, cervix, and the upper part of the vagina. Individuals with Müllerian aplasia and hyperandrogenism typically have an underdeveloped or absent uterus and may also have abnormalities of other reproductive organs. Women with this condition have normal female external genitalia, and they develop breasts and pubic hair normally at puberty; however, they do not begin menstruation by age 16 (primary amenorrhea) and will likely never have a menstrual period. Affected women are unable to have children (infertile).

Women with Müllerian aplasia and hyperandrogenism have higher-than-normal levels of male sex hormones called androgens in their blood (hyperandrogenism), which can cause acne and excessive facial hair (facial hirsutism). Kidney abnormalities may be present in some affected individuals. [from MedlinePlus Genetics]

Clinical features

From HPO

Primary amenorrhea

MedGen UID:: 115918
•Concept ID:: C0232939
•: Disease or Syndrome

Abnormally late or absent menarche in a female with normal secondary sexual characteristics.

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Unilateral renal agenesis

MedGen UID:: 75607
•Concept ID:: C0266294
•: Congenital Abnormality

A unilateral form of agenesis of the kidney.

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Aplasia of the uterus

MedGen UID:: 98421
•Concept ID:: C0425913
•: Finding

Aplasia of the uterus.

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Aplasia of the vagina

MedGen UID:: 330738
•Concept ID:: C1841990
•: Finding

Aplasia of the vagina.

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Abnormal external genitalia

MedGen UID:: 871335
•Concept ID:: C4025825
•: Anatomical Abnormality

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Aplasia of the fallopian tube

MedGen UID:: 1704411
•Concept ID:: C5139111
•: Congenital Abnormality

Aplasia, that is failure to develop, of the fallopian tube.

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Acne

MedGen UID:: 152379
•Concept ID:: C0702166
•: Disease or Syndrome

A skin condition in which there is an increase in sebum secretion by the pilosebaceous apparatus associated with open comedones (blackheads), closed comedones (whiteheads), and pustular nodules (papules, pustules, and cysts).

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Hirsutism