ISSN 1662-4009 (online)

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Yearbook of Paediatric Endocrinology 2020

6. Differences/Disorders of Sex Development and Transgender Medicine

Differences/Disorders of Sex Development: Clinical Studies

ey0017.6-10 | Differences/Disorders of Sex Development: Clinical Studies | ESPEYB17

6.10. The external genitalia score (EGS): A European multicenter validation study

S Van der Straaten , A Springer , A Zecic , D Hebenstreit , U Tonnhofer , A Gawlik , M Baumert , K Szeliga , S Debulpaep , A Desloovere , L Tack , K Smets , M Wasniewska , D Corica , M Calafiore , ML Ljubicic , AS Busch , A Juul , A Nordenstrom , J Sigurdsson , CE Fluck , T Haamberg , S Graf , SE Hannema , KP Wolffenbuttel , O Hiort , SF Ahmed , M Cools

To read the full abstract: J Clin Endocrinol Metab. 2020, Mar 1; 105. doi: https://academic.oup.com/jcem/article-abstract/105/3/e222/5609091?redirectedFrom=fulltextThis cross-sectional study collected measures of genital development from 181 premature neonates, 378 term neonates, 308 babies up to 24 months, and in 111 babies with atypical geni...

ey0017.6-11 | Differences/Disorders of Sex Development: Clinical Studies | ESPEYB17

6.11. Disorder of sex development with germ cell tumors: Which is uncovered first?

C Faure-Conter , D Orbach , B Fresneau , C Verite , J Bonneau , E Thebaud , M Poiree , S Thouvenin , C Pluchart , PY Mure , F Dijoud , Y Morel

To read the full abstract: Pediatr Blood Cancer. 2020, Apr; 67: e28169. doi: https://www.ncbi.nlm.nih.gov/pubmed/32020769This thought-provoking paper looked at the malignancy risk in DSD from a different perspective. In this study, patients with malignant germ cell tumors (GCT) were identified in registries of pediatric GCT treatment from 1995 to 2005 and were then cross-referenced with ...

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: 4366–81. 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...