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ey0017.6-13 | Differences/Disorders of Sex Development: Fertility | ESPEYB17

6.13. Establishing reproductive potential and advances in fertility preservation techniques for XY individuals with differences in sex development

R Islam , S Lane , SA Williams , CM Becker , GS Conway , SM Creighton

To read the full abstract: Clin Endocrinol (Oxf). 2019, Aug; 91: 23744. doi: https://www.ncbi.nlm.nih.gov/pubmed/31004515Fertility issues in individuals with a DSD has attracted increasing attention over the past decade and are summarized in this and other reviews. The various genetic defects that cause DSD and their underlying mechanism may impair fertility in a variety of ways. I...

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ey0016.8-5 | Important for Clinical Practice | ESPEYB16

8.5. Congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency: an endocrine society clinical practice guideline

PW Speiser , W Arlt , RJ Auchus , LS Baskin , GS Conway , DP Merke , HFL Meyer-Bahlburg , WL Miller , MH Murad , SE Oberfield , PC White

To read the full abstract: J Clin Endocrinol Metab. 2018; 103(11): 40434088.Since the publication of the 2010 Endocrine Society clinical practice guideline for Congenital Adrenal Hyperplasia (CAH) due to 21-hydroxylase deficiency, there have been several advances in the diagnosis and management of the condition. Neonatal diagnosis methods have been refined to use gestational age in...

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ey0015.8-14 | New Hope | ESPEYB15

8.14 Modeling Congenital Adrenal Hyperplasia and Testing Interventions for Adrenal Insufficiency Using Donor-Specific Reprogrammed Cells

G Ruiz-Babot , M Balyura , I Hadjidemetriou , SJ Ajodha , DR Taylor , L Ghataore , NF Taylor , U Schubert , CG Ziegler , HL Storr , MR Druce , EF Gevers , WM Drake , U Srirangalingam , GS Conway , PJ King , LA Metherell , SR Bornstein , L Guasti

To read the full abstract: Cell Rep. 2018; 22(5): 1236-1249Primary or secondary adrenal insufficiency (AI) results from adrenal failure or impairment of the hypothalamic-pituitary axis, respectively. The most frequent cause of primary AI is autosomal recessive congenital adrenal hyperplasia (CAH). Patients with AI need life-long treatment with exogenous steroids, which can be challenging, ...

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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...

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ESPE Yearbook of Paediatric Endocrinology

6.13. Establishing reproductive potential and advances in fertility preservation techniques for XY individuals with differences in sex development

8.5. Congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency: an endocrine society clinical practice guideline

8.14 Modeling Congenital Adrenal Hyperplasia and Testing Interventions for Adrenal Insufficiency Using Donor-Specific Reprogrammed Cells

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

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