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Hypospadias 

Hypospadias
Chapter:
Hypospadias
Author(s):

Robin D. Clark

, and Cynthia J. Curry

DOI:
10.1093/med/9780199990993.003.0027
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date: 13 November 2019

This chapter reviews background information about the incidence, risk factors, family history, genetics, recurrence risk, and epidemiology of isolated and syndromic hypospadias and some disorders of sex development (DSD)—6,XY DSD and 46,XX DSD. The associations with male factor infertility, intracytoplasmic sperm injection, low birth weight, and low anoscrotal distance are discussed. The differential diagnosis of genital anomalies summarizes common causes, including teratogenic agents, chromosome anomalies, including copy number variants, Mendelian disorders that also affect musculoskeletal, skeletal, and connective tissues, and it gives recommendations for evaluation and management. A clinical case presentation features an infant conceived by in vitro fertilization with severe early IUGR and hypospadias.

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