Severe in utero under-virilization in a 46,XY patient with Silver-Russell syndrome with 11p15 loss of methylation
-
Masanori Adachi
,
Maki Fukami
,
Masayo Kagami
Abstract
Background
Silver-Russell syndrome (SRS) is characterized by growth retardation and variable features including macrocephaly, body asymmetry, and genital manifestations such as cryptorchidism in 46,XY patients.
Case presentation
The patient was born at 39 weeks with a birth weight of 1344 g. Subtle clitoromegaly warranted a thorough evaluation, which disclosed 46,XY karyotype, bilateral undescended testes, and a rudimentary uterus. Because of severe under-virilization, the patient was assigned as female. Failure to thrive, macrocephaly, and body asymmetry led to the diagnosis of SRS, confirmed by marked hypomethylation of H19/IGF2 intergenic differentially methylated region (IG-DMR). From age 9 years, progressive virilization occurred, which necessitated luteinizing hormone-releasing hormone analog (LHRHa) treatment. Gonadal resection at 15 years revealed immature testes with mostly Sertoli-cell-only tubules. Panel analysis for 46,XY-differences of sex development (DSD) failed to detect any pathogenic variants.
Conclusions
This is the second reported case of molecularly proven 46,XY SRS accompanied by severe under-virilization. SRS should be included in the differential diagnosis of 46,XY-DSD.
Statement of ethics: An informed consent form for the permission of publication with photos was obtained from the patient and her parents.
Author contributions: All the authors have accepted responsibility for the entire content of this 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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Supplementary Material
The online version of this article offers supplementary material (https://doi.org/10.1515/jpem-2018-0464).
©2019 Walter de Gruyter GmbH, Berlin/Boston
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Articles in the same Issue
- Frontmatter
- Mini Review
- Clinical, biochemical, and molecular spectrum of short/branched-chain acyl-CoA dehydrogenase deficiency: two new cases and review of literature
- Original Articles
- Assessment of biomarkers of inflammation and premature atherosclerosis in adolescents with type-1 diabetes mellitus
- Frequency, clinical characteristics, biochemical findings and outcomes of DKA at the onset of type-1 DM in young children and adolescents living in a developing country – an experience from a pediatric emergency department
- Hepatopathies in children and adolescents with type 1 diabetes
- Comparative evaluation of neuroendocrine dysfunction in children with craniopharyngiomas before and after mass effects are removed
- Functional and endocrine-metabolic oligomenorrhea: proposal of a new diagnostic assessment tool for differential diagnosis in adolescence
- Socioeconomic status of the population – a prime determinant in evaluating iodine nutritional status even in a post salt iodization scenario
- Long-term outcome of hyperthyroidism diagnosed in childhood and adolescence: a single-centre experience
- Thyroid function in patients with Prader-Willi syndrome: an Italian multicenter study of 339 patients
- Maternal factors associated with neonatal vitamin D deficiency
- IGF-1 assessed by pubertal status has the best positive predictive power for GH deficiency diagnosis in peripubertal children
- One-year treatment with gonadotropin-releasing hormone analogues does not affect body mass index, insulin sensitivity or lipid profile in girls with central precocious puberty
- Letter to the Editor
- Prediabetes in children and adolescents in the United States: prevalence estimates and comorbidities – a population analysis
- Case Reports
- Severe in utero under-virilization in a 46,XY patient with Silver-Russell syndrome with 11p15 loss of methylation
- Carney complex due to a novel pathogenic variant in the PRKAR1A gene – a case report
- Challenging diagnosis of thyroid hormone resistance initially as Hashimoto’s thyroiditis
