ISSN 1662-4009 (online)

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Yearbook of Paediatric Endocrinology 2021

ey0018.6-1 | Basic and Genetic Research of DSD | ESPEYB18

6.1. Ovotesticular disorders of sex development in FGF9 mouse models of human synostosis syndromes

AD Bird , BM Croft , M Harada , L Tang , L Zhao , Z Ming , S Bagheri-Fam , P Koopman , Z Wang , K Akita , VR Harley

Hum Mol Genet. 2020 Aug 3;29(13):2148–2161. doi: doi:10.1093/hmg/ddaa100. study explores the hitherto unknown role of FGF9 in human testis development. The authors use two mouse models that phenocopy the skeletal defects of dominant FGF9 mutations that cause skelet...

ey0018.6-2 | Basic and Genetic Research of DSD | ESPEYB18

6.2. Testis formation in XX individuals resulting from novel pathogenic variants in Wilms' tumor 1 (WT1) gene

C Eozenou , N Gonen , MS Touzon , A Jorgensen , SA Yatsenko , L Fusee , AK Kamel , B Gellen , G Guercio , P Singh , S Witchel , AJ Berman , R Mainpal , M Totonchi , A Mohseni Meybodi , M Askari , T Merel-Chali , J Bignon-Topalovic , R Migale , M Costanzo , R Marino , P Ramirez

Proc Natl Acad Sci USA. 2020 Jun 16;117(24):13680–13688. 10.1073/pnas.1921676117. PMID: 32493750.On the search for a genetic cause for 46,XX virilization due to testicular (TDSD) or ovotesticular DSD (OTDSD), 78 individuals were studied by whole exome sequencing. In 7 cases, heterozygous de novo variants were found in the 4th zinc finger (ZF4) of the Wilms tumor 1 gene (<em...

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...

ey0018.6-4 | Basic and Genetic Research of DSD | ESPEYB18

6.4. COG6-CDG: Expanding the phenotype with emphasis on glycosylation defects involved in the causation of male disorders of sex development.

H Mandel , N Cohen Kfir , A Fedida , E Shuster Biton , M Odeh , L Kalfon , S Ben- Harouch , V Fleischer Sheffer , Y Hoffman , Y Goldberg , A Dinwiddie , E Dumin , A Eran , L Apel-Sarid , D Tiosano , TC Falik-Zaccai

Clin Genet. 2020 Oct;98(4):402–407. 10.1111/cge.13816. PMID: 32683677.This short report describes two 46,XY siblings of consanguineous parents manifesting a complex syndrome consisting of multiple dysmorphic features including growth and developmental retardation, gastrointestinal disorders, musculoskeletal and cardiac anomalies, as well as ambiguous genitalia (non-palpable testes, micropenis, und...

ey0018.6-5 | Basic and Genetic Research of DSD | ESPEYB18

6.5. Applying Single-Cell Analysis to Gonadogenesis and DSDs (Disorders/Differences of Sex Development)

MA Estermann , CA Smith

Int J Mol Sci. 2020 Sep 10;21(18). pii: E6614. doi: 10.3390/ijms21186614. PMID: 32927658This review first summarises current molecular knowledge of gonadal development and related DSDs, and then overviews methods of single-cell sequencing (sc-seq) technologies and their applications and findings for healthy gonads and disease states. Recent studies are listed in two tables and major findings ...

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

6.6. Gonad differentiation toward ovary

S Lamothe , V Bernard , S Christin-Maitre

Ann Endocrinol (Paris). 2020 Jun;81(2–3):83–88. doi: 10.1016/j.ando.2020.04.004. PMID: 32340851This short review summarises the history and current knowledge of molecular genetic aspects of the human gonadal differentiation toward ovary.Major scientific milestones on the topic are described. It is interesting to learn on what grounds it was common doctri...