Pubertal outcomes and sex of rearing of patients with ovotesticular disorder of sex development and mixed gonadal dysgenesis
10.6065/apem.2019.24.4.231
- Author:
Yoon Myung KIM
1
;
Arum OH
;
Kun Suk KIM
;
Han Wook YOO
;
Jin Ho CHOI
Author Information
1. Department of Pediatrics, GangNeung Asan Hospital, Gangneung, Korea.
- Publication Type:Original Article
- Keywords:
Ambiguous genitalia;
Disorder of sex development;
Gonadal dysgenesis;
Ovotestis
- MeSH:
Adolescent;
Diagnosis, Differential;
Disorders of Sex Development;
Female;
Follow-Up Studies;
Genitalia;
Gonadal Dysgenesis;
Gonadal Dysgenesis, Mixed;
Gonads;
Humans;
Karyotype;
Male;
Ovotesticular Disorders of Sex Development;
Puberty;
Retrospective Studies
- From:Annals of Pediatric Endocrinology & Metabolism
2019;24(4):231-236
- CountryRepublic of Korea
-
Abstract:
PURPOSE: Patients with ovotesticular disorder of sex development (DSD) and mixed gonadal dysgenesis (MGD) usually present with asymmetric gonads and have wide phenotypic variations in internal and external genitalia. The differential diagnosis of these conditions is based on karyotype and pathological findings of the gonads. This study investigated the clinical features at presentation, karyotype, sex of rearing, and pubertal outcomes of patients with ovotesticular DSD and MGD.METHODS: The study comprised 23 patients with DSD who presented with asymmetric gonads. The presenting features, karyotype, sex of rearing, and pubertal outcomes were reviewed retrospectively.RESULTS: All 23 patients presented with ambiguous genitalia at a median age of 1 month (range, 1 day–1.6 years). Müllerian duct remnants were identified in 15 of 23 patients (65.2%). Fourteen patients were diagnosed with ovotesticular DSD, whereas the other 9 were diagnosed with MGD. Eight of 14 patients (57.1%) with ovotesticular DSD were raised as males, while 7 of 9 patients with MGD (77.8%) were assigned as males. One male-assigned patient with ovotesticular DSD changed to female sex at age 20 years.CONCLUSION: Patients with ovotesticular DSD and MGD manifest overlapping clinical presentations and hormonal profiles. It is difficult to determine the sex of rearing and predict long-term pubertal outcomes. Therefore, long-term follow-up is required to monitor spontaneous puberty, sex outcome, and urological and gynecological complications.
