Clinical Characteristics of 46,XX Males with Congenital Adrenal Hyperplasia
Şenay Savaş-Erdeve1, Zehra Aycan2, Semra Çetinkaya1, Ayşe Pınar Öztürk3, Firdevs Baş3, Şükran Poyrazoğlu3, Feyza Darendeliler3, Elif Özsu2, Zeynep Şıklar2, Meliha Demiral4, Edip Unal4, Mehmet Nuri Özbek4, Fatih Gürbüz5, Bilgin Yüksel5, Olcay Evliyaoğlu6, Nesibe Akyürek7, Merih Berberoğlu21University of Health Sciences Turkey, Dr. Sami Ulus Obstetrics and Gynecology, Children’s Health and Disease Training and Research Hospital, Clinic of Pediatric Endocrinology, Ankara, Turkey2Ankara University Faculty of Medicine, Department of Pediatric Endocrinology, Ankara, Turkey
3İstanbul University Faculty of Medicine, Department of Pediatric Endocrinology, İstanbul, Turkey
4University of Health Sciences Turkey, Diyarbakır Gazi Yaşargil Training and Research Hospital, Clinic of Pediatric Endocrinology, Diyarbakır, Turkey
5Çukurova University Faculty of Medicine, Department of Pediatric Endocrinology, Adana, Turkey
6İstanbul University-Cerrahpaşa, Cerrahpaşa Faculty of Medicine, Department of Pediatric Endocrinology, İstanbul, Turkey
7University of Health Sciences Turkey, Konya Training and Research Hospital, Clinic of Pediatric Endocrinology, Konya, Turkey
Objective: To retrospectively evaluate the follow-up data in patients with 46,XX congenital adrenal hyperplasia (CAH) who were raised male.
Methods: A national database was created. The data of patients were asked to be recorded in the data form.
Results: The median (range) age of diagnosis was three (0.1-18.3) years in 44 patients. Twenty nine cases were diagnosed after the age of two years. Most (95.4%) cases were stage 4-5 virilized. Hysterectomy and bilateral salpingoopherectomy, at a median age of 7.25 (2.4-25.3) years, was performed in 35 cases. Testicular prostheses were placed in 11 (25%) cases at a median age of 11.2 (2.8-17) years. The median final height was 149.2 (132.8-172) cms in 38 patients, including simple virilizing (n=18), salt-wasting (n=6), and 11-beta hydroxylase (n=12). Of the 16 patients above the age of eighteen, university education was completed in 25%.
Conclusion: It was seen that most (65.9%) of the 46,XX CAH cases raised male were diagnosed after two years of age. In these cases, hysterectomy and bilateral salpingoopherectomy, genital corrective surgeries and testicular prosthesis operations were performed in a very wide age rage.
Manuscript Language: English
