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Congenital Adrenal Hyperplasia — Feminizing Genitoplasty

Reconstructive surgical management of virilized external genitalia in girls with classic congenital adrenal hyperplasia (most often 21-hydroxylase deficiency), addressing clitoromegaly, common urogenital sinus, and labial fusion to align anatomy with female sex assignment.

Written by: Saygı Hospital Health Guide Editorial Board
Last updated:

This content has been compiled by the Saygı Hospital Health Guide Editorial Board and is periodically reviewed by a specialist physician.

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This content is for informational purposes only and does not constitute medical advice. You can book an appointment at our Kadın Hastalıkları ve Doğum department. Book Appointment →

What is Congenital Adrenal Hyperplasia — Feminizing Genitoplasty?

Congenital adrenal hyperplasia (CAH) most commonly results from 21-hydroxylase deficiency (CYP21A2 mutations) causing impaired cortisol synthesis, ACTH-driven adrenal androgen excess, and virilization of the external genitalia in 46,XX fetuses while internal female reproductive structures (uterus, ovaries, vagina) develop normally.

Severity ranges from minor clitoromegaly to fully formed phallus with urogenital sinus; Prader staging (1–5) describes degree of virilization, with stages 3–5 typically considered for feminizing genitoplasty.

Modern approach involves multidisciplinary disorders of sex development (DSD) team including pediatric endocrinology, urology, gynecology, psychology, and ethics; emphasizes deferred non-essential surgery, nerve-sparing techniques, single-stage urogenital mobilization, and active family/patient involvement.

Symptoms

Ambiguous external genitalia at birth — clitoromegaly, partial labial fusion, common urogenital sinus, virilized phallus
Salt-wasting crisis in neonatal period (vomiting, hyponatremia, hyperkalemia, hypotension, shock) requiring urgent fluid and steroid resuscitation
Hyperpigmentation, hypoglycemia, growth failure if untreated
Later in childhood: precocious adrenarche, advanced bone age, behavioral concerns, body image issues
Female adolescents and adults: dyspareunia, narrow vaginal opening, urinary tract concerns, fertility considerations
Psychological burden of genital ambiguity, gender identity exploration, surgical experience

Risk Factors

Autosomal recessive inheritance — both parents are carriers of CYP21A2 mutations
Family history of CAH or unexplained neonatal death
Consanguinity in family, founder mutations in some populations
Prenatal androgen exposure determining degree of virilization (severity of mutation)
Variable expressivity — non-classic CAH, simple virilizing, salt-wasting forms
Newborn screening positive for elevated 17-hydroxyprogesterone — confirmatory testing needed

When to See a Doctor?

If you experience any of the following symptoms, seek medical attention promptly:

  • Newborn with ambiguous genitalia — urgent neonatology and pediatric endocrinology evaluation, hold sex assignment until evaluation
  • Salt-wasting crisis in neonate or infant — emergency stabilization and steroid replacement
  • Confirmed CAH with significant virilization (Prader 3–5) — multidisciplinary DSD team referral for surgical consultation
  • Adolescent or adult woman with prior surgery and dyspareunia, urinary issues, or psychological distress — combined urogynecology and psychology support
  • Decision-making about timing of surgery — extensive multidisciplinary counseling and patient/family-centered approach

Treatment Methods

01
Lifelong hormone replacement: hydrocortisone and fludrocortisone for cortisol and aldosterone deficiency, with mineralocorticoid support; stress dose adjustment for illness, surgery
02
Feminizing genitoplasty principles: nerve-sparing reduction clitoroplasty (preserving glans and dorsal neurovascular bundle), labioplasty with preservation of erectile tissue, and urogenital mobilization to separate vagina from urethra
03
Single-stage total or partial urogenital mobilization at 6–12 months versus delayed surgery deferred to adolescent decision; decision based on Prader stage, family/patient preference, and surgical center experience
04
Vaginoplasty or vaginal dilation in adolescence if needed for vaginal introitus inadequacy; psychological support throughout childhood and adolescence
05
Long-term follow-up: endocrine control with target 17-OHP and androgens, fertility counseling, sexual function assessment, mental health screening, and ongoing family-centered support

Which Department to Visit?

You can visit our Kadın Hastalıkları ve Doğum department for these complaints. Our specialist physicians will create the most suitable treatment plan for you.

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Health Disclaimer: The information on this page is prepared for general informational purposes only. It does not replace medical diagnosis and treatment. Please consult your physician for your complaints. Saygı Hospital does not accept responsibility for actions taken based on the information on this page.