ISSN 1662-4009 (online)

ey0015.6-14 | New function of old genes | ESPEYB15

6.14 GATA4 Variants in Individuals With a 46,XY Disorder of Sex Development (DSD) May or May Not Be Associated With Cardiac Defects Depending on Second Hits in Other DSD Genes

I Martinez de LaPiscina , C de Mingo , S Riedl , A Rodriguez , AV Pandey , M Fernández-Cancio , N Camats , A Sinclair , L Castaño , L Audi , CE Flück

To read the full abstract: Front Endocrinol (Lausanne). 2018 Apr 4;9:142Here, Martinez de LaPiscina et.al. investigated gene-gene interactions in 46,XY DSD. GATA4 is known to be associated with 46,XY DSD and has also been described to cause congenital heart defects. The authors characterize 3 individuals with 46,XY DSD, and GATA4 variants; 1 patient with and 2 without congenital heart defects....

ey0019.6-4 | Co-morbidities associated with DSD | ESPEYB19

6.4. Growth, puberty and testicular function in boys born small for gestational age with a nonspecific disorder of sex development

LJW Tack , der Straaten S van , S Riedl , A Springer , PM Holterhus , NC Hornig , Z Kolesinska , M Niedziela , F Baronio , A Balsamo , SE Hannema , A Nordenstrom , S Poyrazoglu , FF Darendeliler , R Grinspon , R Rey , F Aljuraibah , J Bryce , F Ahmed , R Tadokoro-Cuccaro , I Hughes , G Guaragna-Filho , AT Maciel-Guerra , G Guerra-Junior , M Cools

Clin Endocrinol (Oxf). 2022 Feb;96(2):165-174. PMID: 34668586, doi: 10.1111/cen.14614.Brief Summary: This retrospective case-control study used data from the international DSD registry to investigate the long-term outcomes of males born small for gestational age (SGA) with hypospadias/DSD. A large cohort of 179 boys (115 males born SGA; 64 appropriate for gestational age) was investigated for growt...

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...