BSPED2015 e-Posters Pituitary and growth (18 abstracts)
GH deficiency and phenotypic features in four cases of 22q11.2 deletion syndrome
Dalvir Kular 1 , Joanne Baker 2 & Mehul Dattani 3
1Department of Medicine, Luton and Dunstable Hospital, Luton, UK; 2Department of Paediatrics, Canterbury Hospital, Canterbury, Kent, UK; 3Genetics and Epigenetics in Health and Disease Section, Genetics and Genomic Medicine Programme, UCL Institute of Child Health, London, UK.
Background: 22q11.2 deletion syndrome (22q11DS) displays a wide phenotypic spectrum and is the most common deletion syndrome with an estimated incidence of one in 4000 children. Short stature is a phenotypic feature of the spectrum; uncommonly, GH deficiency (GHD) has been identified as a cause of short stature within this population.
Patients and methods: We describe a case series of four 22q11DS patients with concurrent GHD that have been followed up in our paediatric endocrinology clinics; we present clinical, auxological, biochemical, and neuro-radiological data.
Results: All four patients had heights below the 0.4th centile. They subsequently underwent GH provocation testing (Table 1) and were diagnosed with GHD. No other pituitary hormone deficiencies were identified. Three of the four patients had familial 22q11 deletions (Patients 1 and 2 were siblings). All four patients had dysmorphic features and congenital heart disease. Patients 2 and 3 had small anterior pituitaries. Patient 4 had cryptorchidism, which was later surgically corrected. The patients were all commenced on GH replacement therapy, with an excellent response.
| Patient | Age (years) | MRI appearance | Source of 22q11 deletion | GH peak (μg/l) | IGF1 | IGFBP-3 |
| 1 | 3 | Right-sided polymicrogyria | Paternal | 5.8 | 7.1 pmol/l (4–20) | * |
| 2 | 3 | Small anterior pituitary and right-sided polymicrogyria | Paternal | 3.2 | 19 pmol/l (4–20) | * |
| 3 | 2.7 | Small anterior pituitary, normal posterior pituitary and stalk | Sporadic | 5.0 | 29 ng/ml (49–289) | 1.55 mg/l (0.9–4.3) |
| 4 | 7.16 | N | Maternal | 6.5 | 30 ng/ml (45–302) | 1.78 mg/l (1.6–6.5) |
| *N/A, N – normal but specific report not available, M-mother, F-father | ||||||
Conclusion: Our data suggest that 22q11DS patients with short stature should be appropriately investigated for GHD if they manifest poor growth; early treatment with r-hGH may help optimise height.
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