An atypical presentation of a pathogenic STK11 gene variant in siblings not fulfilling the clinical diagnostic criteria for Peutz-Jeghers Syndrome
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Meera Shaunak
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Lucy Side
Abstract
Objectives
To report an atypical presentation of a pathogenic STK11 gene variant in siblings not fulfilling the clinical diagnostic criteria for Peutz-Jeghers Syndrome (PJS).
Case presentation
Two siblings presented with prepubertal gynaecomastia and bilateral macro-orchidism, without mucocutaneous pigmentation or gastrointestinal symptoms. There was no family history of PJS. Sibling 1 had unilateral gynaecomastia. Sibling 2 had bilateral gynaecomastia, advanced bone age and bilateral testicular microlithiasis, not indicative of a large-cell calcifying Sertoli cell tumour. Genetics revealed a paternally inherited heterozygous pathogenic STK11 variant (910C>T) in both siblings. The diagnosis was confirmed following the identification of multiple intestinal polyps in their father.
Conclusions
Prepubertal gynaecomastia and prepubertal macro-orchidism (testicular enlargement without virilisation), always warrant endocrinological investigation, with PJS being an important differential diagnosis. Children may not fulfil the clinical criteria for a diagnosis of PJS at presentation. Genetic testing and gastroenterological investigation of parents may aid diagnosis.
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Research funding: None declared.
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Author contributions: All authors have accepted responsibility for the entire content of this manuscript and approved its submission.
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Competing interests: Authors state no conflict of interest.
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Informed consent: Informed consent was obtained from all individuals included in this case report.
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Ethical approval: Not applicable.
References
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© 2021 Walter de Gruyter GmbH, Berlin/Boston
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Artikel in diesem Heft
- Frontmatter
- Review Article
- Medullary thyroid carcinoma in children: current state of the art and future perspectives
- Original Articles
- Newly defined peroxisomal disease with novel ACBD5 mutation
- Pediatric adrenocortical tumors cohort characteristics and long-term follow-up at a single Argentinian tertiary center
- Sleep disorder and behavior problems in children with type 1 diabetes mellitus
- Increased hepcidin levels and non-alcoholic fatty liver disease in obese prepubertal children: a further piece to the complex puzzle of metabolic derangements
- Screening for testicular adrenal rest tumors among children with congenital adrenal hyperplasia at King Fahad Medical City, Saudi Arabia
- The association between vitamin D levels and metabolic syndrome components among metropolitan adolescent population
- Utility of wrist circumference in recognition of metabolic syndrome in overweight and obese South Indian children and adolescents
- Ketoacidosis in new-onset type 1 diabetes: did the severity increase during the COVID-19 pandemic?
- Predictors of decreased bone mineral density in childhood systemic lupus erythematosus: possible role of osteoprotegerin gene polymorphisms
- Psychiatric behavioral effect and characteristics of type 2 diabetes mellitus on Japanese patients with Prader-Willi syndrome: a preliminary retrospective study
- Biochemical predictors of metabolically unhealthy obesity in children and adolescents
- Adiposity rebound in very-low-birth-weight infants
- The association between a metabolically healthy overweight/obesity phenotype and markers of inflammation among Chinese children and adolescents aged 10–18 years
- Case Reports
- Management of perinatal HPP during critical illness/ECMO
- Wolfram-like syndrome – another face of a rare disease in children
- Two Japanese siblings with arginase-1 deficiency identified using a novel frameshift mutation of ARG1 (p.Lys41Thrfs∗2)
- An atypical presentation of a pathogenic STK11 gene variant in siblings not fulfilling the clinical diagnostic criteria for Peutz-Jeghers Syndrome
