University of Health Sciences Turkey, Dr. Sami Ulus Obstetrics and Gynecology, Children’s Health and Disease Training and Research Hospital, Clinic of Pediatric Endocrinology, Ankara, Turkey
Ankara University Faculty of Medicine, Department of Pediatric Endocrinology, Ankara, Turkey
J Clin Res Pediatr Endocrinol. 2021 Jun 2;13(2):180-186. doi: 10.4274/jcrpe.galenos.2020.2020.0216. Epub 2020 Dec 30.
To retrospectively evaluate the follow-up data in patients with 46,XX congenital adrenal hyperplasia (CAH) who were raised male.
A national database was created. The data of patients were asked to be recorded in the data form.
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%.
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.
回顾性评估被男性抚养的 46，XX 先天性肾上腺皮质增生症（CAH）患者的随访数据。
创建了一个全国性数据库。要求患者的数据记录在数据表中。
44 例患者的中位（范围）诊断年龄为 3 岁（0.1-18.3 岁）。29 例在 2 岁以后被诊断。大多数（95.4%）病例为 4-5 期男性化。35 例患者在中位年龄 7.25 岁（2.4-25.3 岁）时进行了子宫切除术和双侧输卵管卵巢切除术。11 例（25%）患者在中位年龄 11.2 岁（2.8-17 岁）时放置了睾丸假体。38 例患者的最终身高中位数为 149.2（132.8-172）cm，包括单纯男性化（n=18）、失盐型（n=6）和 11-β羟化酶缺乏型（n=12）。在 16 名年龄超过 18 岁的患者中，有 25%完成了大学教育。
研究发现，65.9%（29/44）的被男性抚养的 46，XX CAH 患者在 2 岁后被诊断。在这些病例中，子宫切除术和双侧输卵管卵巢切除术、生殖器矫正手术和睾丸假体手术在很宽的年龄范围内进行。
