Sertoli cell only syndrome with ambiguous genitalia
-
Fatih Gurbuz
,
Serdar Ceylaner
Abstract
The Sertoli cell only syndrome (SCOS) is a rare genetic disorder with a variable phenotype ranging from a severe ambiguous genitalia to a normal male phenotype with infertility. SCOS is diagnosed on testicular histopathology as germ cells are absent without histological impairment of Sertoli or Leydig cells. The SRY positive XX male syndrome is usually diagnosed in adulthood during infertility investigations. Here, we report a rare case of 46,XX maleness with ambiguous genitalia due to Sertoli cell only syndrome (SCOS).
Author contributions: All the authors have accepted responsibility for the entire content of this submitted manuscript and approved submission.
Research funding: None declared.
Employment or leadership: None declared.
Honorarium: None declared.
Competing interests: The funding organization(s) played no role in the study design; in the collection, analysis, and interpretation of data; in the writing of the report; or in the decision to submit the report for publication.
References
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©2016 by De Gruyter
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- Frontmatter
- Original Articles
- Translation and psychometric properties of the Persian version of self-management of type 1 diabetes for adolescents
- Generic and disease-specific quality of life in adolescents with type 1 diabetes: comparison to age-matched healthy peers
- Relationship between HOMA-IR and serum vitamin D in Chinese children and adolescents
- Low 25-hydroxyvitamin D level is not an independent risk factor for hepatosteatosis in obese children
- Pediatric thyroid nodules: ultrasonographic characteristics and inter-observer variability in prediction of malignancy
- Frequency of thyroid status monitoring in the first year of life and predictors for more frequent monitoring in infants with congenital hypothyroidism
- Biochemical, radiological, and genetic characterization of congenital hypothyroidism in Abu Dhabi, United Arab Emirates
- High prevalence of DUOX2 mutations in Japanese patients with permanent congenital hypothyroidism or transient hypothyroidism
- Children with severe Osteogenesis imperfecta and short stature present on average with normal IGF-I and IGFBP-3 levels
- Association between physical activity and bone in children with Prader-Willi syndrome
- CNDP1 genotype and renal survival in pediatric nephropathies
- 17-Hydroxyprogesterone responses to human chorionic gonadotropin are not associated with serum anti-Mullerian hormone levels among adolescent girls with polycystic ovary syndrome
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