Endocrine Abstracts

The defective conversion of testosterone to dihydrotestosterone due to a steroid 5-alpha-reductase 2 deficiency results in a unique form of 46, XY disorder of sexual development (DSD). Dihydrotestosterone is essential for the embryonic differentiation of the external male genitalia and the prostate. Steroid 5-alpha-reductase 2 deficiency is an autosomal recessive disorder in which genetic males have a predominantly female phenotype with female external genitalia but male inter...

Background: In 1985, Mikati et al., described a new syndrome, which included microcephaly, hypergonadotropic hypogonadism, short stature, mental retardation and minor anomalies in four out of nine siblings of consanguineous parents. No genetic disorder was associated to the disease. No further references to this syndrome have been found in literature. The authors present a new possible case of Mikati-Naijjar and Sahli syndrome (MNJS).Clinical case: Forty...