Growth hormone deficiency as a cause for short stature in Wiedemann-Steiner Syndrome

Endocrinology, Diabetes & Metabolism Case Reports
George StoyleIndraneel Banerjee

Abstract

Wiedemann-Steiner Syndrome (WSS) is a rare condition characterised by short stature, hypertrichosis of the elbow, intellectual disability and characteristic facial dysmorphism due to heterozygous loss of function mutations in KMT2A, a gene encoding a histone 3 lysine 4 methyltransferase. Children with WSS are often short and until recently, it had been assumed that short stature is an intrinsic part of the syndrome. GHD has recently been reported as part of the phenotypic spectrum of WSS. We describe the case of an 8-year-old boy with a novel heterozygous variant in KMT2A and features consistent with a diagnosis of WSS who also had growth hormone deficiency (GHD). GHD was diagnosed on dynamic function testing for growth hormone (GH) secretion, low insulin-like growth factor I (IGF-I) levels and pituitary-specific MRI demonstrating anterior pituitary hypoplasia and an ectopic posterior pituitary. Treatment with GH improved height performance with growth trajectory being normalised to the parental height range. Our case highlights the need for GH testing in children with WSS and short stature as treatment with GH improves growth trajectory. Growth hormone deficiency might be part of the phenotypic spectrum of Wiedemann-Steiner Sy...Continue Reading

References

May 29, 2000·Clinical Dysmorphology·C E Steiner, A P Marques
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Jul 27, 2010·Journal of Stroke and Cerebrovascular Diseases : the Official Journal of National Stroke Association·Haruo NishijimaMasayuki Baba
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Aug 10, 2017·Hormone Research in Pædiatrics·Dina A SchottConstance T R M Stumpel
Dec 26, 2017·American Journal of Human Genetics·Víctor FaundesSiddharth Banka

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Citations

Mar 21, 2019·American Journal of Medical Genetics. Part a·Siddharth BankaJill Clayton-Smith
Jul 10, 2020·European Journal of Human Genetics : EJHG·Elisabetta Di FedeCristina Gervasini

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