Prevalence of hypospadias and other genital anomalies among singleton births, 1988-1997, in Scotland

Ahmed, S Faisal; Dobbie, Richard; Finlayson, Alan; Gilbert, J. A. L.; Youngson, George; Chalmers, Jim; Stone, D.A.

doi:10.1136/adc.2002.024034

Cited by 107 publications

(47 citation statements)

References 13 publications

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“…The prevalence of cryptorchidism is substantial and similar to that of human homosexuality (2-9%; Bay et al 2011), while that of hypospadias is substantial but somewhat lower (prevalence of about .3-4%; Ahmed et al 2004;Boisen et al 2005). Animal models indicate that exposure to androgen antagonists during a short period when the genitals differentiate (but not later in development) leads to highly elevated levels of both hypospadias and cryptorchidism, confirming that both traits are strongly influenced by fetal androgen signaling.…”

Section: Arbitrary Traitsmentioning

confidence: 83%

Homosexuality as a Consequence of Epigenetically Canalized Sexual Development

Rice

Friberg²,

Gavrilets³

2012

The Quarterly Review of Biology

116

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Section: Arbitrary Traitsmentioning

confidence: 83%

Homosexuality as a Consequence of Epigenetically Canalized Sexual Development

Rice

Friberg²,

Gavrilets³

2012

The Quarterly Review of Biology

116

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“…Although truly ambiguous genitalia on expert examination are relatively rare, reported to occur in about 1:4,500 births, 1 a concern about the development of the external genitalia may, however, exist in one in 300 newborn infants. 2 Discrete genetic conditions that underlie DSD are generally rarely identified. For instance, congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency, which is the commonest cause of 46,XX DSD, has an approximate incidence of one in 10,000 to one in 14,000 in all infants.…”

Section: Introduction To the Management Issues In Disorders Of Sex Dementioning

confidence: 99%

Disorders of sex development: advances in genetic diagnosis and challenges in management

Kyriakou¹,

Lucas‐Herald²,

McGowan³

et al. 2015

AGG

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Disorders of sex development (DSD) are a group of rare conditions that usually present with atypical genitalia in the newborn period or as delayed puberty in an adolescent. Although a concern about the development of external genitalia may exist in one in 300 newborn infants, discrete genetic conditions that underlie DSD are generally rarely identified. It is likely that this diagnostic gap exists for a number of reasons and these include an inadequate knowledge of the pathogenesis and underlying mechanisms that lead to DSD, variation in assessment and in-depth phenotyping of these rare conditions, inadequate availability of quality accredited laboratories and, lastly, limited awareness of the value of a molecular genetic diagnosis for improving short-term and long-term care of the affected person.

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“…The external genitalia are the most common sites of congenital abnormalities in humans (8)(9)(10). Of those, hypospadias is the frequent abnormality in which the urethral opening is ectopically located on the ventral (lower) side of the penis (8,(10)(11)(12).…”

mentioning

confidence: 99%

“…Of those, hypospadias is the frequent abnormality in which the urethral opening is ectopically located on the ventral (lower) side of the penis (8,(10)(11)(12). The male urethra connects the bladder to the penis and transports urine and semen outside of the body.…”

mentioning

confidence: 99%

Sexually dimorphic expression ofMafbregulates masculinization of the embryonic urethral formation

Suzuki

Numata

Suzuki

et al. 2014

Proc. Natl. Acad. Sci. U.S.A.

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Masculinization of external genitalia is an essential process in the formation of the male reproductive system. Prominent characteristics of this masculinization are the organ size and the sexual differentiation of the urethra. Although androgen is a pivotal inducer of the masculinization, the regulatory mechanism under the control of androgen is still unknown. Here, we address this longstanding question about how androgen induces masculinization of the embryonic external genitalia through the identification of the v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog B (Mafb) gene. Mafb is expressed prominently in the mesenchyme of male genital tubercle (GT), the anlage of external genitalia. MAFB expression is rarely detected in the mesenchyme of female GTs. However, exposure to exogenous androgen induces its mesenchymal expression in female GTs. Furthermore, MAFB expression is prominently down-regulated in male GTs of androgen receptor (Ar) KO mice, indicating that AR signaling is necessary for its expression. It is revealed that Mafb KO male GTs exhibit defective embryonic urethral formation, giving insight into the common human congenital anomaly hypospadias. However, the size of Mafb KO male GTs is similar with that of wild-type males. Moreover, androgen treatment fails to induce urethral masculinization of the GTs in Mafb KO mice. The current results provide evidence that Mafb is an androgen-inducible, sexually dimorphic regulator of embryonic urethral masculinization.Mafb | masculinization | urethra | hypospadias | androgen receptor

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Prevalence of hypospadias and other genital anomalies among singleton births, 1988-1997, in Scotland

Cited by 107 publications

References 13 publications

Homosexuality as a Consequence of Epigenetically Canalized Sexual Development

Homosexuality as a Consequence of Epigenetically Canalized Sexual Development

Disorders of sex development: advances in genetic diagnosis and challenges in management

Sexually dimorphic expression ofMafbregulates masculinization of the embryonic urethral formation

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