Sex determination and disorders of sex development according to the revised nomenclature and classification in 46,XX individuals.

[aromatase deficiency]

There have been considerable advances concerning understanding of the early and later stages of ovarian development ; a number of genes have been implicated and their mutations have been associated with developmental abnormalities . The most important genes controlling the initial phase of gonadal development , identical in females and males , are Wilms ' tumor suppressor 1 (WT 1 ) and steroidogenic factor 1 (SF 1 ). Four genes are likely to be involved in the subsequent stages of ovarian development (WNT 4 , DAX 1 , FOXL 2 and RSPO 1 ), but none is yet proven to be the ovarian determining factor . Changes in nomenclature and classification were recently proposed in order to incorporate genetic advances and substitute gender-based diagnostic labels in terminology . The term "disorders of sex development " (DSD ) is proposed to substitute the previous term "intersex disorders ". Three main categories have been used to describe DSD in the 46 ,XX individual : 1 ) disorders of gonadal (ovarian ) development : ovotesticular DSD , previously named true hermaphroditism , testicular DSD , previously named XX males , and gonadal dysgenesis ; 2 ) disorders related to androgen excess (congenital adrenal hyperplasia , aromatase deficiency and P 450 oxidoreductase deficiency ); and 3 ) other rare disorders . In this mini-review , recent advances concerning development of the genital system in 46 ,XX individuals and related abnormalities are discussed . Basic embryology of the ovary and molecular pathways determining ovarian development are reviewed , focusing on mutations disrupting normal ovarian development . Disorders of sex development according to the revised nomenclature and classification in 46 ,XX individuals are summarized , including genetic progress in the field .

Diseases
Validation

Diseases presenting "other rare disorders" symptom

aromatase deficiency

You can validate or delete this automatically detected symptom