New Functions of (Old) Genes

ey0016.6-2 | New Functions of (Old) Genes | ESPEYB16

6.2. Epigenetic repression of androgen receptor transcription in mutation-negative androgen insensitivity syndrome (AIS type II)

NC Hornig , P Rodens , H Dorr , NC Hubner , AE Kulle , HU Schweikert , M Welzel , S Bens , O Hiort , R Werner , S Gonzalves , AK Eckstein , M Cools , A Verrijn-Stuart , HG Stunnenberg , R Siebert , O Ammerpohl , PM Holterhus

J Clin Endocrinol Metab. 2018 Dec 1;103(12):46174627.doi: 10.1210/jc.2018-00052. PMID: 30124873This study shows for the first time that epigenetic changes in the androgen receptor gene (AR) proximal promoter region may underlie a clinical phenotype of Androgen Insensitivity Syndrome (AIS) in individuals in whom no DNA sequence mutation in AR or ...

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ey0016.6-3 | New Functions of (Old) Genes | ESPEYB16

6.3. Human sex reversal is caused by duplication or deletion of core enhancers upstream of SOX9

B Croft , T Ohnesorg , J Hewitt , J Bowles , A Quinn , J Tan , V Corbin , E Pelosi , J van den Bergen , R Sreenivasan , I Knarston , G Robevska , DC Vu , J Hutson , V Harley , K Ayers , P Koopman , A Sinclair

Nat Commun. 2018 Dec 14;9(1):5319.doi: 10.1038/s41467-018-07784-9. PubMed [citation] PMID: 30552336Initial steps in the sex determination of the (human) testis depend on SRY regulating SOX9, but the exact mechanism that controls SOX9 expression remains unknown. These authors discovered four overlapping copy number variations (CNVs) upstr...

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ey0016.6-4 | New Functions of (Old) Genes | ESPEYB16

6.4. Essential role of BRCA2 in ovarian development and function

A Weinberg-Shukron , M Rachmiel , P Renbaum , S Gulsuner , T Walsh , O Lobel , A Dreifuss , A Ben-Moshe , S Zeligson , R Segel , T Shore , R Kalifa , M Goldberg , MC King , O Gerlitz , E Levy-Lahad , D Zangen

N Engl J Med. 2018 Sep 13;379(11):10421049.doi: 10.1056/NEJMoa1800024. PMID: 30207912This case report describes two sisters with 46,XX karyotype and hypergonadotropic hypogonadism i.e. ovarian dysgenesis. They had normal general development and normal cognition. With estrogen replacement they developed normal sex characteristics and reached their target he...

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ey0016.6-5 | New Functions of (Old) Genes | ESPEYB16

6.5. Assembling the jigsaw puzzle: CBX2 isoform 2 and its targets in disorders/differences of sex development

P Sproll , W Eid , CR Gomes , BB Mendonca , NL Gomes , EM Costa , A Biason-Lauber

Mol Genet Genomic Med. 2018 Sep;6(5):785795.doi: 10.1002/mgg3.445. PubMed PMID: 29998616Chromobox protein homolog 2 (CBX2) has two isoforms, CBX2.1 and the shorter CBX2.2. CBX2.1 was previously shown to be essential for male gonadal development, when a mutation was identified in a girl with 46,XY DSD. CBX2.1 stimulates male-specific...

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ey0016.6-6 | New Functions of (Old) Genes | ESPEYB16

6.6. Early-onset complete ovarian failure and lack of puberty in a woman with mutated estrogen receptor [beta] (ESR2)

M Lang-Muritano , P Sproll , S Wyss , A Kolly , R Hurlimann , D Konrad , A Biason-Lauber

J Clin Endocrinol Metab. 2018 Oct 1;103(10):37483756.doi: 10.1210/jc.2018-00769. PubMed PMID: 30113650This case report describes a 16 year old girl with 46,XX karyotype, no pubertal development and streak gonads. The girl was 150 cm tall and had closed epiphyses and osteoporosis. Genetic investigation by whole exome sequencing showed a loss-of-function mutation i...

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ESPE Yearbook of Paediatric Endocrinology

Yearbook of Paediatric Endocrinology 2019

6. DSD and Gender Dysphoria

6.2. Epigenetic repression of androgen receptor transcription in mutation-negative androgen insensitivity syndrome (AIS type II)

6.3. Human sex reversal is caused by duplication or deletion of core enhancers upstream of SOX9

6.4. Essential role of BRCA2 in ovarian development and function

6.5. Assembling the jigsaw puzzle: CBX2 isoform 2 and its targets in disorders/differences of sex development

6.6. Early-onset complete ovarian failure and lack of puberty in a woman with mutated estrogen receptor [beta] (ESR2)

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