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George Stoyle Department of Paediatric Endocrinology, Royal Manchester Children’s Hospital, Manchester, UK
Manchester Medical School, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK

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Siddharth Banka Manchester Centre for Genomic Medicine, Division of Evolution & Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK
Manchester Centre for Genomic Medicine, St Mary’s Hospital, Manchester University, NHS Foundation Trust, Health Innovation Manchester, Manchester, UK

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Claire Langley Manchester Centre for Genomic Medicine, St Mary’s Hospital, Manchester University, NHS Foundation Trust, Health Innovation Manchester, Manchester, UK

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Elizabeth A Jones Manchester Centre for Genomic Medicine, Division of Evolution & Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK
Manchester Centre for Genomic Medicine, St Mary’s Hospital, Manchester University, NHS Foundation Trust, Health Innovation Manchester, Manchester, UK

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Indraneel Banerjee Department of Paediatric Endocrinology, Royal Manchester Children’s Hospital, Manchester, UK

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Summary

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.

Learning points:

  • Growth hormone deficiency might be part of the phenotypic spectrum of Wiedemann–Steiner Syndrome (WSS).

  • Investigation of pituitary function should be undertaken in children with WSS and short stature. A pituitary MR scan should be considered if there is biochemical evidence of growth hormone deficiency (GHD).

  • Recombinant human growth hormone treatment should be considered for treatment of GHD.

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Alireza Arefzadeh Endocrinology Department, School of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran

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Pooyan Khalighinejad School of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran

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Bahar Ataeinia School of Medicine, Tehran University of Medical Sciences, Tehran, Iran

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Pegah Parvar School of Medicine, Islamic Azad University Medical Branch of Tehran, Tehran, Iran

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Summary

Deletion of chromosome 2q37 results in a rare congenital syndrome known as brachydactyly mental retardation (BDMR) syndrome; a syndrome which has phenotypes similar to Albright hereditary osteodystrophy (AHO) syndrome. In this report, we describe a patient with AHO due to microdeletion in long arm of chromosome 2 [del(2)(q37.3)] who had growth hormone (GH) deficiency, which is a unique feature among reported BDMR cases. This case was presented with shortening of the fourth and fifth metacarpals which along with AHO phenotype, brings pseudopseudohypoparathyroidism (PPHP) and pseudohypoparathyroidism type Ia (PHP-Ia) to mind; however, a genetic study revealed del(2)(q37.3). We recommend clinicians to take BDMR in consideration when they are faced with the features of AHO; although this syndrome is a rare disease, it should be ruled out while diagnosing PPHP or PHP-Ia. Moreover, we recommend evaluation of IGF 1 level and GH stimulation test in patients with BDMR whose height is below the 3rd percentile.

Learning points:

  • Clinicians must have brachydactyly mental retardation (BDMR) syndrome in consideration when they are faced with the features of Albright hereditary osteodystrophy.

  • Although BDMR syndrome is a rare disease, it should be ruled out while diagnosing PPHP or PHP-Ia.

  • Evaluation of IGF1 level in patients diagnosed with BDMR whose height is below the 3rd percentile is important.

Open access