ESPE Yearbook of Paediatric Endocrinology

ESPE Yearbook of Paediatric Endocrinology

ISSN 1662-4009 (online)

Published by BioScientifica

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ey0016.6-4 | New Functions of (Old) Genes | ESPEYB16

6.4. Essential role of BRCA2 in ovarian development and function

A Weinberg-Shukron , M Rachmiel , P Renbaum , S Gulsuner , T Walsh , O Lobel , A Dreifuss , A Ben-Moshe , S Zeligson , R Segel , T Shore , R Kalifa , M Goldberg , MC King , O Gerlitz , E Levy-Lahad , D Zangen

N Engl J Med. 2018 Sep 13;379(11):1042–1049.doi: 10.1056/NEJMoa1800024. PMID: 30207912This case report describes two sisters with 46,XX karyotype and hypergonadotropic hypogonadism – i.e. ovarian dysgenesis. They had normal general development and normal cognition. With estrogen replacement they developed normal sex characteristics and reached their target he...
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Published by BioScientifica

ESPE Yearbook of Paediatric Endocrinology
ISSN 1662-4009 (Online)
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