ESPE Yearbook of Paediatric Endocrinology

ESPE Yearbook of Paediatric Endocrinology

ISSN 1662-4009 (online)

Published by BioScientifica

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ey0018.13-11 | Endocrinology | ESPEYB18

13.11. Clinical characteristics of 46,XX males with congenital adrenal hyperplasia

S Savaş-Erdeve , Z Aycan , S Cetinkaya , AP Ozturk , F Bas , S Poyrazoglu , F Darendeliler , E Ozsu , Z Sıklar , M Demiral , E Unal , M Nuri Ozbek , F Gurbuz , B Yuksel , O Evliyaoglu , N Akyurek , M Berberoglu

J Clin Res Pediatr Endocrinol 2020 Dec 30.doi: 10.4274/jcrpe.galenos.2020.2020.0216– The characteristics of 44 patients with 46,XX congenital adrenal hyperplasia (CAH) who were raised as males were described– 15/44 (34%) were diagnosed before 2 years of age– The median final height was 149.2 (range 133–172) cmThis paper discusses an important ...
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ey0015.2-12 | Neonatal diabetes with autoimmunity can be associated with LRBA Mutations | ESPEYB15

Neonatal diabetes with autoimmunity can be associated with LRBA Mutations

MB Johnson , E De Franco , H Lango Allen , A Al Senani , N Elbarbary , Z Siklar , M Berberoglu , Z Imane , A Haghighi , Z Razavi , I Ullah , Alyaarubi , D Gardner , S Ellard , AT Hattersley , SE Flanagan

To read the full abstract: Diabetes 2017 Aug;66(8):2316-2322Biallelic mutations in the human lipopolysaccharide responsive beige-like anchor (LRBA) gene lead to a primary immunodeficiency known as LRBA deficiency, characterized early-onset hypogammaglobulinemia, severe autoimmune manifestations, enteropathy, lymphoproliferation, and recurrent respiratory tract infections. Neonatal diabetes mellitus (...
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Published by BioScientifica

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