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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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ey0018.7-1 | Clinical Guidance | ESPEYB18

7.1. Cranial MRI abnormalities and long-term follow-up of the lesions in 770 girls with central precocious puberty

D Helvacıoğlu , S Demircioğlu Turan , T Guran , Z Atay , A Dağcınar , D Bezen , E Karakılıc Ozturan , F Darendeliler , A Yuksel , F Dursun , S Kılınc , S Semiz , S Abalı , M Yıldız , A Onder , A Bereket

J Clin Endocrinol Metab. 2021 Mar 25:dgab190. doi: 10.1210/clinem/dgab190. PMID: 33765130. https://academic.oup.com/jcem/article-abstract/106/7/e2557/6188450?redirectedFrom=fulltextIn brief: This multicentre cohort study explores the frequency, long-term outcomes and potential p...

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ey0019.6-5 | Basic and Genetic Research of DSD | ESPEYB19

6.5. Broad-spectrum XX and XY gonadal dysgenesis in patients with a homozygous L193S variant in PPP2R3C

D Cicek , N Warr , G Yesil , Eker H Kocak , F Bas , S Poyrazoglu , F Darendeliler , G Direk , N Hatipoglu , M Eltan , Abali Z Yavas , Tosun B Gurpinar , SB Kaygusuz , Menevse T Seven , D Helvacioglu , S Turan , A Bereket , R Reeves , M Simon , M Mackenzie , L Teboul , A Greenfield , T Guran

Eur J Endocrinol. 2021 Dec 1;186(1):65-72. PMID: 34714774, doi: 10.1530/EJE-21-0910.Brief Summary: This brief report describes a novel gene, PPP2R3C, in the pathogenesis of complete and partial XY and XX gonadal dysgenesis (GD).GD is a very rare condition with an estimated prevalence of 19 cases per 100,000 live-births. GD can be classified as either complete...

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ey0017.6-12 | Differences/Disorders of Sex Development: Clinical Studies | ESPEYB17

6.12. Clinical but not histological outcomes in males with 45,X/46,XY mosaicism vary depending on reason for diagnosis

ML Ljubicic , A Jorgensen , C Acerini , J Andrade , A Balsamo , S Bertelloni , M Cools , RT Cuccaro , F Darendeliler , CE Fluck , RP Grinspon , A Maciel-Guerra , T Guran , SE Hannema , AK Lucas-Herald , O Hiort , PM Holterhus , C Lichiardopol , LHJ Looijenga , R Ortolano , S Riedl , SF Ahmed , A Juul

To read the full abstract: J Clin Endocrinol Metab. 2019, Oct 1; 104: 436681. doi: https://www.ncbi.nlm.nih.gov/pubmed/31127831This retrospective observational study compared long-term health outcomes between 46,X/46,XY individuals diagnosed early in life due to genital anomalies (n =35) and those diagnosed later due other reasons (n =28). Data came from 16 clinic...

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ey0017.8-17 | Food for Thought | ESPEYB17

8.17. Plasma renin measurements are unrelated to mineralocorticoid replacement dose in patients with primary adrenal insufficiency

R Pofi , A Prete , V Thornton-Jones , J Bryce , SR Ali , Ahmed S Faisal , A Balsamo , F Baronio , A Cannuccia , A Guven , T Guran , F Darendeliler , C Higham , W Bonfig , L de Vries , TASS Bachega , MC Miranda , BB Mendonca , V Iotova , M Korbonits , NP Krone , R Krone , A Lenzi , W Arlt , RJ Ross , AM Isidori , JW Tomlinson

To read the full abstract: J Clin Endocrinol Metab. 2020; 105(1): dgz055. PMID: 31613957.Mineralocorticoid (MC) replacement therapy along with glucocorticoid (GC) replacement is crucial to avoid life-threating adrenal crises in Addison´s disease (AD) and in classical CAH (13). MC is administered with the aim of achieving plasma renin concentration (PRC) within the upper limit of ...

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ey0020.2-2 | Important for Clinical Practice | ESPEYB20

2.2. Safety and efficacy of pediatric growth hormone therapy: results from the full KIGS cohort

M Maghnie , MB Ranke , ME Geffner , E Vlachopapadopoulou , L Ibanez , M Carlsson , W Cutfield , R Rooman , R Gomez , MP Wajnrajch , A Linglart , R Stawerska , PE Clayton , F Darendeliler , ACS Hokken-Koelega , R Horikawa , T Tanaka , HG Dorr , K Albertsson-Wikland , M Polak , A Grimberg

Brief summary: This study reports data from the full Kabi/Pfizer International Growth Database (KIGS), a large international database including 83803 children treated with rhGH for GHD and non-GHD conditions. The data confirm that rhGH is effective in increasing short-term height gain and adult height in various conditions and validate rhGH safety, with no new serious adverse events reported.KIGS (Kabi/Pfizer International Growth Database), first establi...

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ESPE Yearbook of Paediatric Endocrinology

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

7.1. Cranial MRI abnormalities and long-term follow-up of the lesions in 770 girls with central precocious puberty

6.5. Broad-spectrum XX and XY gonadal dysgenesis in patients with a homozygous L193S variant in PPP2R3C

6.12. Clinical but not histological outcomes in males with 45,X/46,XY mosaicism vary depending on reason for diagnosis

8.17. Plasma renin measurements are unrelated to mineralocorticoid replacement dose in patients with primary adrenal insufficiency

2.2. Safety and efficacy of pediatric growth hormone therapy: results from the full KIGS cohort

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