Abstract
Introduction. Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders of adrenal steroidogenesis. In approximately 90-95% of the CAH cases, it is a deficiency of the enzyme steroid 21-hydroxylase. The degree of enzyme insufficiency determines the severity of the disease. In the simple virilizing type of CAH dominant symptoms are virilization in girls and precocious puberty in boys. Virilizing type of CAH is the most common etiology of ambiguous genitalia in women. There are several options for surgical reconstruction of such anomalies, which must always be optimized to the patient’s anatomy, to achieve a good esthetic and functional result.
Detailed presentation of the case. The paper presents the case of a 36-year old woman with delayed pediatric diagnosis of simple virilizing type of CAH, due to deficiency of 21-hydroxylase, pronounced phenotypic virilization, clitoromegaly, hyperpigmentation of the external genitalia, vaginal hypoplasia and existence of low confluence of the urethra with the vagina in so called low type of urogenital sinus andbilateral micromastia, also called mammary hypoplasia. The patient underwent augmention mammoplasty, clitoroplasty, reduction of clitoral hood and proximal labioplasty.
Discussion. CAH is a continuum of disorders, affecting patients throughout the life. Feminizing genitoplasty includes three parts: clitoroplasty, labioplasty and vaginoplasty. Clitorectomy in modern times is unacceptable option.
Conclusion. Surgical management and reconstruction in women with simple virilizing type CAH and ambiguous genitalia remains still controversial and emotionally laden area in reconstructive surgical activity and requires a team approach.
Frequency of enzyme deficiencies in patients with congenital adrenal hyperplasia: A single-center experience with 145 patients
