A team of surgeons from the Clinic for Children’s Diseases, University Clinical Center Tuzla for the first time performed a reduction clitoroplasty to the female patient with ambiguous genitalia due to adrenal hyperplasia. For most patients with CAH , this type of surgery will greatly improve quality of life and enable normal development of sexual identity.
Preoperative medical assessment and postoperative follow-up of patient carried out Prof. Dr. Alma Toromanović.
The operating team consisted of Ass. Prof. Edin Husarić, Ass. Prof. Amir Halilbašić, Dr. Sanimir Suljendić, specialists in pediatric surgery, Dr. Dženita Ahmetašević and Dr. Lejla Delić, anesthesiologists, and operating room nurses Mirsada Zahirović, Jasmina Hasanović and Mirsada Peljdić.
Congenital adrenal hyperplasia represents a group of monogenic diseases resulting from disorder in the activity of enzymes involved in the production of cortisol and aldosterone with autosomal recessive inheritance pattern. In the most common cases, 90% of them, adrenal hyperplasia involves a deficiency of the enzyme 21-hydroxylase. The incidence of the disease is 1:160000, and equally affects both male and female children. In the event of the birth of the first child with CAH, it is very important for the family to analyze genotype of the affected child and their parents which allows for prenatal diagnosis in subsequent pregnancies. The primary clinical manifestation of the disease is virilization of the external genitalia of the female fetus who has normally developed uterus, tubus and ovaries The degree of genital virilization is different and ranges from mild clitoromegaly to complete fusion of labial folds and expressed clitoromegaly with the appearance of the penis. 21-hydroxylase deficiency in males does not cause abnormalities of the external genitalia, so that there is no clear clinical signs that may suggest to the potential adrenal crisis. However, the lack of aldosterone which is observed in about 75% of patients with CAH results in a high rate of sodium loss and hydration shock. It is not possible to make distinguish between simple virilizing and salt-waisting form of the disease based on the degree of masculization of the external genitalia.
The diagnosis of congenital adrenal hyperplasia is established on the finding of high concentration of 17-OHP in serum of a newborn.
