Published : 17 July This process involves a complex regulatory network in which activation of one pathway, i. Lin YT, Capel B.
That leaves the sex assignment unclear or a mixture of both male and female. J Clin Endocr Metab ;— The differentiation of other parts of the body than the sex organ creates the secondary sex characteristics. Cholesterol side chain cleavage mutations CYP11A1.
The magnitude of external genital virilization may be so extensive that affected female infants appear to be atypical sex differentiation in language in Gloucester with bilateral undescended testes [ 17 ]. The specific phenotype depends on relative gene expression patterns and the function of the gonads particularly related to hormone secretion.
About this article Cite this article Warne, G. Science Advances. In such cases, it is not always possible to tell right away differentiate whether the baby is a boy or a girl. Footnotes Publisher's Disclaimer: This is a PDF file of an unedited manuscript that has been accepted for publication.
P oxidoreductase POR mutations. Ambiguous genitalia: an Indian perspective. Hyperpigmentation of the scrotum may be apparent.
Download as PDF Printable version. Other typical presentations include short stature and delayed puberty. Limitations of their report include small sample size and incomplete knowledge regarding the functional competence of these germ cells. Clinical, biochemical, and genetic findings in a large pedigree of male and female patients with 5-alpha-reductase 2 deficiency.