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Atypical genitalia in neonates
Selected examples of abnormal testosterone production (red) or testosterone action (purple) in 46,XY differences of sex development. Glossary: 3 beta-hydroxysteroid dehydrogenase deficiency (3β-HSD), 17 alpha-hydroxylase deficiency (17α-HSD), 17 beta-hydroxysteroid dehydrogenase deficiency (17β-HSD), androgen receptor (AR), complete androgen insensitivity (CAIS), partial androgen insensitivity (PAIS)
Davies JH, Cheetham T. Recognition and assessment of atypical and ambiguous genitalia in the newborn. Arch Dis Child. 2017 April [epub ahead of print].
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Atypical genitalia in neonates
Infant presenting with ambiguous genitalia; the history and appearance are most likely consistent with mixed gonadal dysgenesis
From the personal collection of Dr Ingrid Holm
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Atypical genitalia in neonates
Infant presenting with ambiguous genitalia; history and appearance are most likely consistent with congenital adrenal hyperplasia, due to 21 hydroxylase deficiency
From the personal collection of Dr Ingrid Holm
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Atypical genitalia in neonates
External masculinization score
Created by the BMJ Knowledge Centre based on Davies JH, Cheetham T. Recognition and assessment of atypical and ambiguous genitalia in the newborn. Arch Dis Child. 2017 April [epub ahead of print].
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Atypical genitalia in neonates
Examples of genes that control different stages of sex determination; ovarian determining genes are the subject of ongoing research
Davies JH, Cheetham T. Recognition and assessment of atypical and ambiguous genitalia in the newborn. Arch Dis Child. 2017;102(10):968-74.
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Atypical genitalia in neonates
Schematic representation of sex differentiation. Glossary: 5 alpha-reductase (5α-R), anti-Müllerian hormone (AMH), dihydrotestosterone (DHT)
Davies JH, Cheetham T. Recognition and assessment of atypical and ambiguous genitalia in the newborn. Arch Dis Child. 2017;102(10):968-74.
See this image in context in the following section/s:
Atypical genitalia in neonates
Selected examples of causes of androgen excess in 46,XX differences of sex development
Davies JH, Cheetham T. Recognition and assessment of atypical and ambiguous genitalia in the newborn. Arch Dis Child. 2017 April [epub ahead of print].
See this image in context in the following section/s:
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