ESPE Yearbook of Paediatric Endocrinology

ESPE Yearbook of Paediatric Endocrinology

ISSN 1662-4009 (online)

Published by BioScientifica

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

6.6. Early-onset complete ovarian failure and lack of puberty in a woman with mutated estrogen receptor [beta] (ESR2)

M Lang-Muritano , P Sproll , S Wyss , A Kolly , R Hurlimann , D Konrad , A Biason-Lauber

J Clin Endocrinol Metab. 2018 Oct 1;103(10):3748–3756.doi: 10.1210/jc.2018-00769. PubMed PMID: 30113650This case report describes a 16 year old girl with 46,XX karyotype, no pubertal development and streak gonads. The girl was 150 cm tall and had closed epiphyses and osteoporosis. Genetic investigation by whole exome sequencing showed a loss-of-function mutation i...
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Published by BioScientifica

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