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Genetic Aspects of Hypospadias

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Hypospadias Surgery

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Abstract

In this chapter, I give an overview of the current knowledge on genes involved in the etiology of hypospadias. I begin with a short description of genes involved in the embryology of the male external genitalia and focus the remainder of this chapter on the evidence for genes relevant to the etiology of hypospadias. I used the review article that we published in 2012 as basis, updated it with new information, and subsequently summarized the main facts in order not to be too detailed. I focus on the etiology of isolated hypospadias in humans. Therefore, I do not review animal studies or syndromic forms of hypospadias.

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Abbreviations

AMH:

Anti-Müllerian hormone

AR:

Androgen receptor

ATF3:

Activating transcription factor 3

BMP:

Bone morphogenetic proteins

CAH:

Congenital adrenal hyperplasia

CAIS:

Complete androgen insensitivity syndromes

DGKK:

DiacylGlycerol kinase κ

DHT:

DiHydroTestosterone

DSD:

Disorder of sex development

ESR:

EStrogen receptors

FGF:

Fibroblast growth factor proteins

GT:

Genital tubercle

hCG:

Human chorionic gonadotropin

MAMLD1:

MAstermind-like domain containing 1

PAIS:

Partial androgen insensitivity syndromes

Sf1:

Splicing factor 1

SHH:

Sonic HedgeHog

SRD5A:

Steroid-5-alpha-reductase

SRY:

Sex-determining region Y gene

Wt1:

Wilms tumor 1

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  1. Department for Health Evidence, Radboud University Medical Center, Nijmegen, The Netherlands

    Loes F. M. van der Zanden

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  1. Hypospadias Center and Pediatric Surgery Department, Sana Klinikum Offenbach, Academic Teaching Hospital of the Johann Wolfgang Goethe University, Offenbach, Frankfurt, Germany

    Ahmed T. Hadidi

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van der Zanden, L.F.M. (2022). Genetic Aspects of Hypospadias. In: Hadidi, A.T. (eds) Hypospadias Surgery. Springer, Cham. https://doi.org/10.1007/978-3-030-94248-9_11

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