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Article

Novel PIK3R1 gene mutation associated with SHORT syndrome: a case report of a 15-year-old female.

Journal of pediatric endocrinology & metabolism : JPEM - 17 Dec 2024

Osman Amani, Morsi Amr, El-Refee Sherif, Suliman Sara

Abstract excerpt

OBJECTIVES: To present the clinical journey and management of a 15-year-old female with SHORT syndrome, highlighting the diagnostic challenges and the novel genetic mutation identified. CASE PRESENTATION: A 15-year-old Filipino female was initially seen in a dermatology clinic at 9 years old for axillary skin darkening, indicative of acanthosis nigricans. Early evaluations revealed elevated blood glucose levels,...

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Identifiers

PMID: 39258502
DOI: 10.1515/jpem-2024-0244

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