Display Settings:

Format
Items per page

Send to:

Choose Destination
We are sorry, but NCBI web applications do not support your browser and may not function properly. More information

Results: 10

1.

Female pseudohermaphroditism

MedGen UID:
65964
Concept ID:
C0238394
Disease or Syndrome
2.

Pseudohermaphroditism

A condition of sexual ambiguity in which the individual (pseudohermaphrodite) possesses gonadal tissue of one SEX but exhibits external PHENOTYPE of the opposite sex. Female pseudohermaphroditism is an individual with XX karyotype, normal development of OVARIES and internal reproductive tract, but with ambiguous or virilized external GENITALIA. Male pseudohermaphroditism is characterized by the presence of a Y CHROMOSOME and TESTES, but the genital tract and external genitalia are ambiguous or completely female. [from MeSH]

MedGen UID:
10991
Concept ID:
C0033804
Congenital Abnormality
3.

Female

A person who belongs to the sex that normally produces ova. The term is used to indicate biological sex distinctions, or cultural gender role distinctions, or both. (NCI) [from NCI]

MedGen UID:
8807
Concept ID:
C0015780
Finding
4.

Female pseudohermaphroditism

Hermaphroditism refers to a discrepancy between the morphology of the gonads and that of the external genitalia. In female pseudohermaphroditism, the genotype is female (XX) and the gonads are ovaries, but the external genitalia are virilized. [from HPO]

MedGen UID:
506363
Concept ID:
CN009289
Finding
5.

Glucocorticoid resistance

Glucocorticoid resistance is a rare genetic endocrine condition characterized by generalized, partial, target tissue resistance to glucocorticoids. The clinical spectrum of the condition is broad, ranging from asymptomatic to severe cases of hyperandrogenism, fatigue and/or mineralocorticoid excess. [from ORDO]

MedGen UID:
798686
Concept ID:
CN205763
Disease or Syndrome
6.

Aromatase deficiency

Aromatase deficiency disrupts the synthesis of estradiol, resulting in hirsutism of mothers during gestation of an affected child; pseudohermaphroditism and virilization in women; and tall stature, osteoporosis and obesity in men. [from ORDO]

MedGen UID:
797891
Concept ID:
CN206447
Disease or Syndrome
7.

Placental aromatase deficiency

MedGen UID:
743308
Concept ID:
C1960540
Disease or Syndrome
8.

Masculinized female

MedGen UID:
603190
Concept ID:
C0424457
Finding
9.

Aromatase excess syndrome

MedGen UID:
409989
Concept ID:
C1970109
Disease or Syndrome
10.

Aromatase deficiency

Aromatase deficiency is a rare autosomal recessive disorder in which individuals cannot synthesize endogenous estrogens. If a fetus lacks aromatase activity, dehydroepiandrosterone sulfate produced by the fetal adrenal glands cannot be converted to estrogen by the placenta, and is converted to testosterone peripherally and results in virilization of both fetus and mother. Virilization manifests as pseudohermaphroditism in female infants, with hirsutism and acne in the mother; the maternal indicators resolve following delivery. Affected females are usually diagnosed at birth because of the pseudohermaphroditism. Cystic ovaries and delayed bone maturation can occur during childhood and adolescence in these girls, who present at puberty with primary amenorrhea, failure of breast development, virilization, and hypergonadotropic hypogonadism. Affected males do not present with obvious defects at birth. Their clinical symptoms include tall stature, delayed skeletal maturation, delayed epiphyseal closure, bone pain, eunuchoid body proportions, and excess adiposity. Estrogen replacement therapy reverses the symptoms in males and females (summary by Jones et al., 2007). [from OMIM]

MedGen UID:
163903
Concept ID:
C0878680
Disease or Syndrome

Display Settings:

Format
Items per page

Send to:

Choose Destination

Supplemental Content

Find related data

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...