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ey0018.2-10 | Neonatal diabetes mellitus | ESPEYB18

2.10. NKX2-2 mutation causes congenital diabetes and infantile obesity with paradoxical glucose-induced ghrelin secretion.

A Auerbach , A Cohen , N Ofek Shlomai , A Weinberg-Shukron , S Gulsuner , MC King , R Hemi , E Levy-Lahad , A Abulibdeh , D Zangen

J Clin Endocrinol Metab. 2020 Nov 1;105(11):dgaa563. doi: 10.1210/clinem/dgaa563. PMID: 32818257.This manuscript describes an unusual case of a baby born with a homozygous Nkx2.2 mutation who developed severe neonatal diabetes mellitus and then on follow up went onto develop severe obesity characterized by marked hyperphagia.Nkx2.2 is an important transcription factor...

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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):10421049.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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ESPE Yearbook of Paediatric Endocrinology

2.10. NKX2-2 mutation causes congenital diabetes and infantile obesity with paradoxical glucose-induced ghrelin secretion.

6.4. Essential role of BRCA2 in ovarian development and function

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