ESPE Yearbook of Paediatric Endocrinology

ESPE Yearbook of Paediatric Endocrinology

ISSN 1662-4009 (online)

Published by BioScientifica
Previous issue | Volume 21 | ESPEYB21

Yearbook of Paediatric Endocrinology 2024

6. Differences of Sexual Development (DSD) and Gender Incongruence (GI)

DSD - Novel Genes and Mechanisms involved in Gonadal Development

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Tulay Guran, Sabine E Hannema, Busra Gurpinar Tosun
Table of contents
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Clinical and Molecular Insights into SF1 Deficiency

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

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

ey0021.6-2 | DSD - Novel Genes and Mechanisms involved in Gonadal Development

6.2. Variants in SART3 cause a spliceosomopathy characterised by failure of testis development and neuronal defects

ey0021.6-3 | DSD - Novel Genes and Mechanisms involved in Gonadal Development

6.3. Complete male-to-female sex reversal in XY mice lacking the miR-17~92 cluster

ey0021.6-4 | DSD - Novel Genes and Mechanisms involved in Gonadal Development

6.4. Microdeletion at ESR1 intron 6 (DEL_6_75504) is a susceptibility factor for cryptorchidism and hypospadias

Published by BioScientifica

ESPE Yearbook of Paediatric Endocrinology
ISSN 1662-4009 (Online)
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