An atypical presentation of a pathogenic STK11 gene variant in siblings not fulfilling the clinical diagnostic criteria for Peutz-Jeghers Syndrome
| Autor: | Nadeem A. Afzal, Lucy Side, Justin H Davies, Meera Shaunak |
|---|---|
| Rok vydání: | 2021 |
| Předmět: |
medicine.medical_specialty
medicine.diagnostic_test business.industry Sertoli cell tumour Endocrinology Diabetes and Metabolism Mucocutaneous zone Peutz–Jeghers syndrome medicine.disease Dermatology Endocrinology Pediatrics Perinatology and Child Health Medicine Sibling Differential diagnosis Family history business Testicular microlithiasis Genetic testing |
| Zdroj: | Journal of Pediatric Endocrinology and Metabolism. 35:131-134 |
| ISSN: | 2191-0251 0334-018X |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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