ISSN 1662-4009 (online)

ey0018.15-10 | (1) | ESPEYB18

15.10. Maternal occupational exposure to endocrine-disrupting chemicals during pregnancy and semen parameters in adulthood: results of a nationwide cross-sectional study among Swiss conscripts

Istvan M , Rahban R , Dananche B , Senn A , Stettler E , Multigner L , Nef S , Garlantezec R

Human Reproduction, 2021; 36(7): 1948–1958https://bit.ly/3vtcByFThis cross-sectional study shows that men who had been exposed in utero to endocrine disruptors (EDC) are twice more likely to have a low sperm count, below the reference values per ejaculation set by the World Health Organisation.Male reproductive function is known to be highly sensitive to a number of chemical compou...

ey0018.6-3 | Basic and Genetic Research of DSD | ESPEYB18

6.3. The FKBP4 gene, encoding a regulator of the androgen receptor signaling pathway, is a novel candidate gene for androgen insensitivity syndrome

E Ilaslan , R Markosyan , P Sproll , BJ Stevenson , M Sajek , MP Sajek , H Hayrapetyan , T Sarkisian , L Livshits , S Nef , J Jaruzelska , K Kusz-Zamelczyk

Int J Mol Sci. 2020 Nov 9;21(21):8403. doi: 10.3390/ijms21218403. PMID: 33182400This case report describes a patient with clinically diagnosed partial androgen insensitivity syndrome (PAIS). However, no mutation in the androgen receptor gene was identified. Instead, whole genome sequencing revealed a heterozygous point mutation inherited from the mother in the FKBP4 gene. This gene i...

ey0017.6-8 | Differences/Disorders of Sex Development: Genetics | ESPEYB17

6.8. Pathogenic variants in the DEAH-box RNA helicase DHX37 are a frequent cause of 46,XY gonadal dysgenesis and 46,XY testicular regression syndrome

K McElreavey , A Jorgensen , C Eozenou , T Merel , J Bignon-Topalovic , DS Tan , D Houzelstein , F Buonocore , N Warr , RGG Kay , M Peycelon , JP Siffroi , I Mazen , JC Achermann , Y Shcherbak , J Leger , A Sallai , JC Carel , L Martinerie , R Le Ru , GS Conway , B Mignot , L Van Maldergem , R Bertalan , E Globa , R Brauner , R Jauch , S Nef , A Greenfield , A Bashamboo

To read the full abstract: Genet Med. 2020, Jan; 22: 150-9. doi: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6944638/pdf/41436_2019_Article_606.pdfMassive parallel sequencing of 145 46,XY DSD patients revealed 13 individuals with heterozygous missense pathogenic variants in the RNA helicase DHX37, explaining 11% of cases of 46,XY gonadal d...

ey0021.6-1 | DSD - Novel Genes and Mechanisms involved in Gonadal Development | ESPEYB21

6.1. The -KTS splice variant of WT1 is essential for ovarian determination in mice

EP Gregoire , MC De Cian , R Migale , A Perea-Gomez , S Schaub , N Bellido-Carreras , I Stevant , C Mayere , Y Neirijnck , A Loubat , P Rivaud , ML Sopena , S Lachambre , MM Linssen , P Hohenstein , R Lovell-Badge , S Nef , F Chalmel , A Schedl , MC Chaboissier

Brief Summary: This study examined the complex process of sex determination in mice, with a specific focus on the role of WT1 isoforms, +KTS and -KTS, during gonadal development. The study provides insights into how the balance between these isoforms impacts sexual differentiation, with broader implications for understanding gonadal dysgenesis conditions, like Frasier syndrome.While the role of the SRY gene in testicular determination i...