Öcal Gönül, Berberoğlu Merih, Sıklar Zeynep, Aycan Zehra, Hacıhamdioglu Bülent, Savas Erdeve Şenay, Çamtosun Emine, Kocaay Pınar, Ruhi Hatice I, Kılıç Birim G, Tukun Ajlan
Pediatric Endocrinology, Department of Pediatric Endocrinology, Ankara University School of Medicine, Ankara, Turkey.
Pediatric Endocrinology, Department of Pediatric Endocrinology, Ankara University School of Medicine, Ankara, Turkey.
J Pediatr Adolesc Gynecol. 2015 Feb;28(1):6-11. doi: 10.1016/j.jpag.2014.01.106. Epub 2014 Nov 12.
The aim of our study was to determine the etiologic distribution of 46,XX disorder of sexual development (DSD) according to the new DSD classification system and to evaluate the clinical features of this DSD subgroup in our patient cohort.
The evaluation criteria and clinical findings of 95 46,XX patients were described by clinical presentation, gonadal morphology, genital anatomy, associated dysmorphic features, presence during prenatal period with/without postnatal virilization, hormonal characteristics, and presence or absence of steroidogenic defects among 319 patients with DSD.
Types and ratios of each presentation of our 95 patients with 46,XX DSD were as follows: 82 had androgen excess (86.3%): (74 had classical congenital adrenal hyperplasia, 2 had CAH variant possibility of P450-oxidoreductase gene defect), 6 had disorders of ovarian development (6.3%): (1 patient had gonadal dysgenesis with virilization at birth with bilateral streak gonad, 4 patients had complete gonadal dysgenesis, and 1 patient had ovotesticular DSD) and 7 had other 46,XX DSD. Two sisters, who had 46,XX complete gonadal dysgenesis,were diagnosed with Perrault Syndrome with ovarian failure due to streak gonads and associated with sensorineural deafness.
46,XX DSD are usually derived from intrauterine virilization and CAH is the most common cause of 46,XX DSD due to fetal androgen exposure.
我们研究的目的是根据新的性发育障碍（DSD）分类系统确定46,XX性发育障碍的病因分布，并评估我们患者队列中该DSD亚组的临床特征。
在319例DSD患者中，通过临床表现、性腺形态、生殖器解剖、相关畸形特征、产前有无伴或不伴产后男性化、激素特征以及是否存在类固醇生成缺陷，描述了95例46,XX患者的评估标准和临床发现。
我们95例46,XX DSD患者每种表现的类型和比例如下：82例雄激素过多（86.3%）：（74例为经典型先天性肾上腺皮质增生，2例可能存在P450氧化还原酶基因缺陷的CAH变异型），6例卵巢发育障碍（6.3%）：（1例患者出生时患有性腺发育不全并伴有男性化，双侧条索状性腺，4例患者患有完全性性腺发育不全，1例患者患有卵睾型DSD），7例患有其他46,XX DSD。两名患有46,XX完全性性腺发育不全的姐妹被诊断为佩罗特综合征，因条索状性腺导致卵巢功能衰竭，并伴有感音神经性耳聋。
46,XX DSD通常源于宫内男性化，先天性肾上腺皮质增生是46,XX DSD由于胎儿雄激素暴露所致的最常见原因。
