Evidence is accumulating that environmental chemicals (ECs) including endocrine-
disrupting compounds (EDCs) can alter female reproductive development, fertility and onset …

Disorders of sex development (DSD) are congenital conditions in which the development of
chromosomal, gonadal, or anatomical sex is atypical. Many of the genes required for gonad …

The congenital aplasia or severe hypoplasia of mullerian structures is infrequent. However,
the features of normal female endocrine function paired with the absence of a functional …

There is emerging evidence that early uterine development in humans is an important
determinant of conditions such as ontogenetic progesterone resistance, menstrual …

Mayer‐Rokitansky‐Küster‐Hauser (MRKH) syndrome is a pathological condition
characterized by primary amenorrhea and infertility and by congenital aplasia of the uterus …

Many factors, including reproductive hormones, have been linked to a woman's risk of
developing breast cancer (BC). We reviewed the literature regarding the relationship …

Abstract Study Objective The Mayer-Rokitansky-Kuester-Hauser (MRKH) syndrome is
characterized by vaginal and uterine aplasia in a 46, XX individual. Multiple abnormalities …

Infants rarely present with truly ambiguous genitalia and such children should be evaluated
by experts who work within a multidisciplinary team that is dedicated for evaluation and …

Androgen insensitivity syndrome (AIS) is typically characterized by evidence of feminization
(ie, undermasculinization) of the external genitalia at birth, abnormal secondary sexual …

In a collaborative study, we investigated four 46, XX adolescent girls with Mayer-Rokitansky-
Küster-Hauser syndrome and hyperandrogenism. Molecular analysis of the WNT4 gene …