Das adrenogenitale Syndrom beim Mädchen/junger Frau

Abstract

With a mean global incidence of 1:14500, congenital adrenal hyperplasia (CAH) is the most common disorder of sexual differentiation (DSD). In case of female karyotype, the prenatal surplus of androgens causes virilization of the external genitalia. This includes clitoral hypertrophy and an increasing higher confluence of the urethra and normal developed proximal vagina, creating the urogenital sinus. Internal genitalia are female. Until recently feminizing surgery was performed within the first 18 months of life, at least concerning clitoroplasty. Though the cosmetic result of this kind of surgery is quite good, functional shortcomings like clitoral hyposensibility were often reported. The latest discussion about treatment of intersex patients resulted in recommendations to prevent early surgery and observe the development of the child, until the child can decide for itself, if and in what direction it wants to undergo surgery. Though CAH patients are seen as a special group within intersex disorders, these recommendations should also be considered for them. The appropriateness of this change in treatment strategy is supported by publications concerning the long-term follow-up of patients, who finally chose a gender that was different from what physicians and parents had expected.