Introduction Frasier syndrome (FS) is a rare inherited kidney disease caused by intron 9
splicing variants of WT1. For wild-type WT1, 2 active splice donor sites in intron 9 cause a …

Около 70% всех гинекологических заболеваний гормонально детерминированы.
Тактика ведения таких пациенток требует от клинициста знаний основ эндокринологии …

Objective: Y-chromosome gonadal dysgenesis (GD) is a rare subgroup of disorders of
sexual development (DSD) which results from underdeveloped testis and may exhibit …

WT1‐related disorders are a group of conditions associated with an aberrant or absent copy
of the WT1 gene. WT1 encodes a zinc‐finger protein that not only acts as a tumor …

Dieses Kapitel möchte das Verständnis für die weibliche Anatomie und Genitalentwicklung
fördern. Ausgehend von Keimzellen und indifferenter Gonadenanlage werden Entwicklung …

A disorder of sex development (DSD) is defined as a congenital condition in which
development of chromosomal, gonadal, or anatomical sex is atypical. Swyer syndrome is an …

We report a 16-year-old phenotypic female with 46, XY complete gonadal dysgenesis and
metastatic dysgerminoma, unexpectedly discovered through direct-to-consumer (DTC) …