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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 133172) cmThis paper discusses an important ...

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ey0020.9-8 | Genetic Obesity and Genetic Risk Score | ESPEYB20

9.8. A National Multicenter Study of Leptin (LEP) and Leptin Receptor (LEPR) deficiency and systematic review

O Besci , SN Fırat , S Ozen , S Cetinkaya , L Akın , Y Kor , Z Pekkolay , S Ozalkak , E Ozsu , SS Erdeve , S Poyrazoglu , M Berberglu , M Aydin , T Omma , B Akinici , K Demir , EA Oral

Brief summary: This paper describes 18 patients with bi-allelic leptin deficiency (LEP, n=11) or leptin receptor deficiency (LEPR, n=7), including 10 new cases and two novel variants. In addition, in a review of the literature (until July 2022), the authors identified n=75 patients living with LEP deficiency and n=90 with LEPR deficiency (n=152 included for comparison between groups).<p class=...

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ESPE Yearbook of Paediatric Endocrinology

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

9.8. A National Multicenter Study of Leptin (LEP) and Leptin Receptor (LEPR) deficiency and systematic review

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