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Turner Syndrome with Y Chromosome: Spontaneous Thelarche, Menarche, and Risk of Malignancy
- Source :
- J Pediatr Adolesc Gynecol
- Publication Year :
- 2019
-
Abstract
- Study Objective Girls with Turner syndrome with Y-chromosome material (TS + Y) are assumed to have nonfunctional gonads with increased tumor risk, therefore prophylactic gonadectomy is recommended at diagnosis. In this study we aimed to determine rates of spontaneous thelarche (ST) and spontaneous menarche (SM), and prevalence of gonadal tumor and malignancy in girls with TS + Y, to further inform discussions about gonadectomy. Design Retrospective review of clinical and pathology data. Setting Multicenter study involving 4 United States children's hospitals. Participants Patients included those with a genetically proven diagnosis of TS + Y and phenotypically female genitourinary exam. Interventions Demographic characteristics, pubertal development, and gonadal pathology data were abstracted from clinical records. Data for ST were analyzed for patients aged 13 years and older and SM for patients older than 15 years. Main Outcome Measures ST, SM, prevalence of gonadal tumor, and malignancy. Results Forty-four patients met inclusion criteria. Nineteen patients were 13 years or older; 8/19 (42%) had ST and reached Tanner stages 2-4 and 2 (11%) had normal ovarian pathology. Nineteen patients were 15 years or older; 2/19 (11%) had SM. Thirty-seven patients underwent gonadectomy; 35 had available pathology results. Gonadoblastoma was identified in 35/7 patients (19%), 1 in situ germ cell neoplasia, and 1 dysgerminoma (3%). One patient with bilateral gonadoblastoma had ST and SM. Conclusion In this multicenter cohort, 42% of girls with TS + Y entered puberty spontaneously and 11% had SM, supportive of gonadal function. Risk of tumor was similar to previous reports. To achieve informed decision-making, discussions about gonadectomy should incorporate potential for gonadal function and tumor risk.
- Subjects :
- Pediatrics
medicine.medical_specialty
Adolescent
Gonadal dysgenesis
Gonadoblastoma
Turner Syndrome
Malignancy
Article
03 medical and health sciences
0302 clinical medicine
Risk Factors
Turner syndrome
Dysgerminoma
medicine
Humans
030212 general & internal medicine
Castration
Thelarche
Child
Gonads
Retrospective Studies
Menarche
030219 obstetrics & reproductive medicine
Chromosomes, Human, Y
business.industry
Intratubular germ cell neoplasia
Obstetrics and Gynecology
General Medicine
medicine.disease
Pediatrics, Perinatology and Child Health
Disease Progression
Female
business
Subjects
Details
- ISSN :
- 18734332
- Volume :
- 33
- Issue :
- 1
- Database :
- OpenAIRE
- Journal :
- Journal of pediatric and adolescent gynecology
- Accession number :
- edsair.doi.dedup.....2d8abd4444a2e8f2aacf87769695cc19