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Clinical but Not Histological Outcomes in Males With 45,X/46,XY Mosaicism Vary Depending on Reason for Diagnosis.
- Source :
-
The Journal of clinical endocrinology and metabolism [J Clin Endocrinol Metab] 2019 Oct 01; Vol. 104 (10), pp. 4366-4381. - Publication Year :
- 2019
-
Abstract
- Context: Larger studies on outcomes in males with 45,X/46,XY mosaicism are rare.<br />Objective: To compare health outcomes in males with 45,X/46,XY diagnosed as a result of either genital abnormalities at birth or nongenital reasons later in life.<br />Design: A retrospective, multicenter study.<br />Setting: Sixteen tertiary centers.<br />Patients or Other Participants: Sixty-three males older than 13 years with 45,X/46,XY mosaicism.<br />Main Outcome Measures: Health outcomes, such as genital phenotype, gonadal function, growth, comorbidities, fertility, and gonadal histology, including risk of neoplasia.<br />Results: Thirty-five patients were in the genital group and 28 in the nongenital. Eighty percent of all patients experienced spontaneous pubertal onset, significantly more in the nongenital group (P = 0.023). Patients were significantly shorter in the genital group with median adult heights of 156.7 cm and 164.5 cm, respectively (P = 0.016). Twenty-seven percent of patients received recombinant human GH. Forty-four patients had gonadal histology evaluated. Germ cells were detected in 42%. Neoplasia in situ was found in five patients. Twenty-five percent had focal spermatogenesis, and another 25.0% had arrested spermatogenesis. Fourteen out of 17 (82%) with semen analyses were azoospermic; three had motile sperm.<br />Conclusion: Patients diagnosed as a result of genital abnormalities have poorer health outcomes than those diagnosed as a result of nongenital reasons. Most patients, however, have relatively good endocrine gonadal function, but most are also short statured. Patients have a risk of gonadal neoplasia, and most are azoospermic, but almost one-half of patients has germ cells present histologically and up to one-quarter has focal spermatogenesis, providing hope for fertility treatment options.<br /> (Copyright © 2019 Endocrine Society.)
- Subjects :
- Adolescent
Adult
Biopsy, Needle
Cohort Studies
Gonadal Dysgenesis, 46,XY epidemiology
Humans
Immunohistochemistry
Karyotyping
Male
Mosaicism
Phenotype
Quality of Life
Retrospective Studies
Semen Analysis methods
Sex Characteristics
Sex Chromosome Aberrations
Spermatogenesis genetics
Turner Syndrome epidemiology
Young Adult
Genitalia, Male abnormalities
Gonadal Dysgenesis, 46,XY genetics
Gonads pathology
Registries
Turner Syndrome genetics
Subjects
Details
- Language :
- English
- ISSN :
- 1945-7197
- Volume :
- 104
- Issue :
- 10
- Database :
- MEDLINE
- Journal :
- The Journal of clinical endocrinology and metabolism
- Publication Type :
- Academic Journal
- Accession number :
- 31127831
- Full Text :
- https://doi.org/10.1210/jc.2018-02752