XY pure gonadal dysgenesis has been found in three phenotypic females in three different sibships in the same family. The proposita, a maternal cousin and a maternal aunt are similarly affected. They ...

The purpose of this paper is to present a case of a newborn infant with gonadal dysgenesis autopsied nineteen days after birth, whose gonadal histology is unusual and in whom one umbilical artery was ...

Gonadal function was assessed in 89 patients after chemotherapy for Hodgkin's disease (HD). Thirty-seven patients had received mechlorethamine, vinblastine, prednisolone, and procarbazine (MVPP) and ...

In this report, we present an adolescent patient with a 46,XY karyotype and phenotypically female genitalia secondary to campomelic dysplasia who presented with primary amenorrhea. This patient is ...

A prospective cohort shows that hormone patterns during minipuberty can help identify ovarian activity in Turner syndrome.

Epidermolytic nevus (EN) is visible as patches of thickened skin over small areas of the body. Mutations in genes encoding the skin proteins keratin 1 or keratin 10 are responsible for EN, but these ...

Results of the United Kingdom Children's Cancer Study Group first Wilms' Tumor Study. Gonadal function was assessed in 89 patients after chemotherapy for Hodgkin's disease (HD). Thirty-seven patients ...