ea0032p640 | Male reproduction | ECE2013
Pignatti Elisa
, Unluhizarci Kursad
, Kartal Ermine
, Ajlouni Kamel
, Khawaja Nahla
, Carani Cesare
, Marino Marco
, Simoni Manuela
, Vighi Eleonora
, Rochira Vincenzo
Introduction: At present, only eight men with loss-of-function mutations in the CYP19A1 gene have been described. Here we report the genetic study of four adult men with undetectable serum estrogens, unfused epiphyses, eunuchoid skeletal proportions, continuing linear growth, tall stature, genu valgum, osteoporosis, obesity and achantosis nigricans. Patient 1 (26-years/182 cm) and 2 (28-years/187 cm) are from Turkey with a history of consanguinity. Patient 3 (44-years...