Adrenogenital Syndrome Producing Female Pseudohermaphroditism with a Phallic Urethra

Patients with CAH and complete virilization have a high risk of being diagnosed late. There are major problems and uncertainties of the patients' families and the treating physicians concerning gender assignment. Gender identity is disturbed in some patients. In addition, multiple surgical procedures are necessary and short stature as well as central precocious puberty might be important to avoid late sequelae. While some surgical interventions are probably unavoidable, most of these issues could be resolved with an early diagnosis. Thus, especially for these patients, a neonatal screening programme for CAH would be of paramount importance.

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“…, 1956; Prader, 1958; Wiedemann, 1965; Weldon et al. , 1966; Gillenwater et al. , 1970; Stolecke, 1970; Hoepffner & Sandig, 1971; Wyatt et al.…”

Section: Discussionmentioning

confidence: 99%

Complete virilization in congenital adrenal hyperplasia: clinical course, medical management and disease‐related complications

Woelfle

Hoepffner

Sippell

et al. 2002

Clinical Endocrinology

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“…The degree of masculinization of the external genitalia may vary from an enlarged clitoris to the rare case with a normally structured penis with a phallic urethra and a well-formed scrotum, albeit without testes [2,3].…”

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confidence: 99%

Penislike clitorises with megalourethras in nonvirilized female fetuses and a newborn. A histopathologic study and its bearing on their pathogenesis

Putte

2009

Journal of Pediatric Surgery

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“…The earlier reports of such cases often involved patients who died in infancy or childhood due to adrenal insufficiency. [10] It was recommended earlier that 46XX CAH patients reared as males should be reassigned as females when a diagnosis was made during childhood, as the benefit of preserving fertility outweighed a small risk of future gender dysphoria. More recently, however, it has been recognized that gender identity appears to be established in the first few years of life and gender reassignment may be harmful.…”

Section: Discussionmentioning

confidence: 99%

Male genitoplasty for 46 XX congenital adrenal hyperplasia patients presenting late and reared as males

Sharma

Gupta

2012

Indian J Endocr Metab

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Aim:To evaluate the clinical profile and management of 46 XX Congenital Adrenal Hyperplasia (CAH) patients presenting with severe virilization and assigned a male gender.Materials and Methods:Of 173 children diagnosed with CAH at the Pediatric Intersex Clinic since 1980, seven children with CAH presented late with severe virilization and were reared as males. All of them were assigned the male sex with removal of the female adnexa. Six were treated with male genitoplasty. Appropriate hormonal supplementation was offered after puberty.Results:The mean age at presentation was 14.2 years (7 – 21). Six patients had presented after puberty, only one at seven years of age. Staged male genitoplasty comprising of chordee correction, male urethroplasty, and bilateral testicular prosthesis was performed. The female adnexa (uterus, ovaries, most of the upper vagina, and the fallopian tubes) were removed. The mental makeup was masculine in six and bigender in one. Bilateral mastectomy was performed at puberty in all. Hormonal treatment comprised of glucocorticoids and testosterone. Six patients were comfortable with the outcome of the masculinizing genitoplasty. One had a short-sized phallus. One had repeated attacks of urinary tract infection arising from the retained lower vaginal pouch. Social adjustments were good in all, except in one who had a bigender mental makeup.Conclusion:CAH patients with severe virilization presenting late and reared as males are extremely rare. However, the assigned gender can be retained adequately as males, meeting the socioeconomic compulsions of the society. The results are satisfactory following appropriate surgical procedures and hormonal supplementation.

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Adrenogenital Syndrome Producing Female Pseudohermaphroditism with a Phallic Urethra

Cited by 11 publications

References 5 publications

Complete virilization in congenital adrenal hyperplasia: clinical course, medical management and disease‐related complications

Complete virilization in congenital adrenal hyperplasia: clinical course, medical management and disease‐related complications

Penislike clitorises with megalourethras in nonvirilized female fetuses and a newborn. A histopathologic study and its bearing on their pathogenesis

Male genitoplasty for 46 XX congenital adrenal hyperplasia patients presenting late and reared as males

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