Disorders of sexual development with XY karyotype and female phenotype: clinical findings and genetic background in a cohort from a single centre
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DOI: 10.1007/s40618-020-01284-8
Abstract: Purpose 46, XY disorders (or differences) of sex development (DSD) are a group of clinical conditions with variable genetic background; correct diagnosis is often difficult, but it permits to optimize the management. The aim of… read more here.
Keywords: female phenotype; genetic background; development; diagnosis ... See more keywords
A novel variant in LCHGR gene in 3 siblings with type 1 Leydig cell hypoplasia
Sign Up to like & getrecommendations! Published in 2020 at "Gynecological Endocrinology"
DOI: 10.1080/09513590.2020.1789859
Abstract: Abstract Introduction Leydig cell hypoplasia (LCH) is an autosomal recessive disease that causes 46, XY sex development disorder. The patients with LCH are usually in the female phenotype and are presented with the complaints of… read more here.
Keywords: leydig cell; primary amenorrhea; novel variant; female phenotype ... See more keywords