Clinical features and management of 33 patients with 46,XX pure gonadal dysgenesis

Abstract

The objective of the study is to summarize the clinical characteristics of 33 patients’ cohort (46,XX pure gonadal dysgenesis, 46,XX PGD), discuss the management, and propose treatment suggestions. Patients’ information, medical history, and medical records were obtained. All patients were closely followed up. At the time of diagnosis, the patients presented 19.53 ± 3.60 years old, 165 ± 6.49 cm height, breast development of Tanner stage I, and infantile female genitalia. High level of follicle-stimulating hormone (87.41 ± 21.50 mIU/mL) and LH (27.10 ± 8.47 mIU/mL) and low level of E2 (8.85 ± 6.13 pg/mL) were observed. Individualized hormone replacement therapy (HRT) was initiated after diagnosis. After 2 years of treatment, all patients had obvious breast development; the uterus showed (2.38 ± 0.60) × (1.38 ± 0.70) × (1.38 ± 0.55) cm growth. The incidence of osteopenia changed from 69.70% to 22.22% and that of osteoporosis changed from 18.18% to 0. Dysgeminoma was found in one patient. We concluded that gonadal dysgenesis in 46,XX PGD causes secondary sexual characteristic absence, tendency of taller, osteoporosis, infertility, and sexual health problems. There is minor chance of tumor occurrence for the patients. Optimal care including HRT and close follow-up are required.

Chinese abstract

本研究的目的在于总结33例患者的临床特征 (46,XX单纯性腺发育不全, 46,XX PGD) , 讨论疾病管理与治疗策略。采集患者基本信息、病史、病历, 紧密随访所有患者。获得诊断时的患者平均年龄为19.53 ± 3.60岁, 身高165 ± 6.49cm, Tanner I期乳房发育, 婴儿期女性生殖器。卵泡刺激素 (87.41 ± 21.50mIU/mL) 与黄体生成素 (27.10 ± 8.47 mIU/mL) 呈高水平, 雌二醇呈低水平 (8.85 ± 6.13pg/mL) 。诊断后开始给予个体化激素替代治疗 (HRT) , 2年后, 所有患者可见乳房发育, 子宫增大(2.38 ± 0.60) × (1.38 ± 0.70) × (1.38 ± 0.55)。骨量减少的发生率由69.70%降至22.22%, 骨质疏松的发生率由18.18%降至0。一例患者出现无性细胞瘤。我们所得结论为46,XX PGD会导致第二性征缺失, 身高增长, 骨质疏松, 不育及性健康问题。有微小的概率会发生肿瘤。需要进行HRT治疗与严密随访。

Keywords:

• 46,XX pure gonadal dysgenesis
• hormone replacement therapy
• hypergonadotrophins
• hypogonadolism
• management

Declaration of interest

The authors report no conflicts of interests.