Endocrine Abstracts

Background: This is associated with important physiological and psychobiological changes for the girl, the family and society. Decreasing the age of puberty has made it difficult to adapt to early sexual activity. Therefore, the diagnosis and management of precocious puberty must be specially considered to ensure the health of future generations. The appearance of secondary sexual characteristics in girls under the age of 8 is considered as precocious puberty (_2.5SD lower tha...

IntroductionDeficiency of 17- beta hydroxysteroid dehydrogenase 3 (17-HSD 3) is a rare autosomal recessive disorder which causes sexual ambiguity in fetuses with 46XY karyotype. Pathogenic mutations in the 17βHSD-3 gene (MIM# 264300) are associated with impaired sexual development of the 46, XY fetus. Here, we describe the clinical and genetic findings of a large family with several 46xy cases with a new mutation in 17-β-HSD3 gene in Qazvtn, Ir...