title: 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.
authors.affiliation: a Department of Obstetrics and Gynecology , Peking Union Medical College Hospital, Chinese Academy of Medical Sciences , Beijing , China and.
authors.forename: He
authors.initials: H
authors.lastname: Huang
authors.affiliation: b Department of Ultrasound , Beijing Tian Tan Hospital, Capital Medical University , Beijing , China.
authors.forename: Chun-Qing
authors.initials: CQ
authors.lastname: Wang
authors.affiliation: a Department of Obstetrics and Gynecology , Peking Union Medical College Hospital, Chinese Academy of Medical Sciences , Beijing , China and.
authors.forename: Qin-Jie
authors.initials: QJ
authors.lastname: Tian
mesh_terms: D000293:Adolescent; D000328:Adult; D015331:Cohort Studies; D004359:Drug Therapy, Combination; D004394:Dydrogesterone / Q000008:administration & dosage / Q000494:pharmacology*; D004958:Estradiol / Q000008:administration & dosage / Q000494:pharmacology*; D005260:Female; D023961:Gonadal Dysgenesis, 46,XX / Q000175:diagnosis* / Q000188:drug therapy*; D020249:Hormone Replacement Therapy / Q000379:methods*; D006801:Humans; D017063:Outcome Assessment, Health Care; D055815:Young Adult
chemical_list: D004958:Estradiol; D004394:Dydrogesterone
keywords: 46,XX pure gonadal dysgenesis; hormone replacement therapy; hypergonadotrophins; hypogonadolism; management