SHORT Syndrome: an Update on Pathogenesis and Clinical Spectrum

Shvalb, Naama Fisch

doi:10.1007/s11892-022-01495-8

Curr Diab Rep

2022

DOI: 10.1007/s11892-022-01495-8

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SHORT Syndrome: an Update on Pathogenesis and Clinical Spectrum

Naama Fisch Shvalb

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Cited by 3 publications

References 39 publications

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Investigation of (Epi)genetic causes in syndromic short children born small for gestational age

Tüysüz,

Kasap,

Uludağ Alkaya

et al. 2023

European Journal of Medical Genetics

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Investigation of (Epi)genetic causes in syndromic short children born small for gestational age

Tüysüz,

Kasap,

Uludağ Alkaya

et al. 2023

European Journal of Medical Genetics

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

Osman,

Morsi,

El-Refee

et al. 2024

Journal of Pediatric Endocrinology and Metabolism

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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, resulting in a pediatric diabetes diagnosis without the usual hyperglycemic symptoms. Her medical history was notable for premature birth, intrauterine growth restriction, a cardiac murmur from patent ductus arteriosus and a bicuspid aortic valve, delayed teething, and distinct dysmorphic features. Genetic testing identified a novel PIK3R1 gene mutation. Treatment with metformin significantly improved her glycemic control and lipid profiles. The patient also displayed delayed puberty and polycystic ovary syndrome-like symptoms, but growth hormone deficiency was excluded. Endocrine evaluation for her short stature and lipodystrophy confirmed the presence of the PIK3R1 mutation. Conclusions This case highlights the importance of thorough endocrine and genetic evaluations in patients with complex clinical presentations like SHORT syndrome. The identification of a novel PIK3R1 gene mutation expands the understanding of the genetic basis of this syndrome and underscores the need for individualized treatment approaches.

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Atypical diabetes arising from SHORT syndrome: a case report

Wang,

Xu,

et al. 2024

Front. Endocrinol.

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Short stature, joint hyperextension, ocular hypotension, Rieger abnormalities, and delayed tooth eruption (SHORT) syndrom is a rare primary autosomal dominant genetic disorder mainly caused by pathogenic loss-of-function variants in the phosphoinositide-3-kinase regulatory subunit 1 (PIK3R1) gene. We report the case of a Chinese adult female patient with SHORT syndrome, carrying a PIK3R1 gene variant (c.1945C > T), who developed abnormal glucose metabolism and severe postprandial insulin resistance over 9 years. Although there are currently no established treatment guidelines for insulin resistance in patients with SHORT syndrome, we implemented a comprehensive treatment plan, including lifestyle interventions, metformin, and voglibose for glucose control. After 6 months of continuous observation, the patient’s blood glucose levels and insulin resistance improved significantly. This case study provides useful insights for future treatment strategies.

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SHORT Syndrome: an Update on Pathogenesis and Clinical Spectrum

Cited by 3 publications

References 39 publications

Investigation of (Epi)genetic causes in syndromic short children born small for gestational age

Investigation of (Epi)genetic causes in syndromic short children born small for gestational age

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

Atypical diabetes arising from SHORT syndrome: a case report

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