Ann Pediatr Endocrinol Metab.  2019 Dec;24(4):231-236. 10.6065/apem.2019.24.4.231.

Pubertal outcomes and sex of rearing of patients with ovotesticular disorder of sex development and mixed gonadal dysgenesis

Affiliations
  • 1Department of Pediatrics, GangNeung Asan Hospital, Gangneung, Korea.
  • 2Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, Seoul, Korea. jhc@amc.seoul.kr
  • 3Department of Urology, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, Seoul, 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.

Keyword

Ambiguous genitalia; Disorder of sex development; Gonadal dysgenesis; Ovotestis

MeSH Terms

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
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