Background: WolfHirschhorn syndrome (WHS) is caused by variably-sized deletion of chromosome 4 involving 4p16 whose typical craniofacial features are Greek warrior helmet appearance of the nose, microcephaly and prominent grabella. Almost all patients show mental retardation and growth delay.
Case presentation: We report on a patient carrying a 4p16 deletion and GH deficiency treated with recombinant human GH (rhGH). The patient is male, born at tem (birth weight 2810 g and length 50 cm) with normal perinatal events. His mother has type 1 diabetes mellitus on intensive insulin therapy. Developmental delay was evident since the first months of life. At the age of 5 years he referred to us due to short stature 87 cm (−4.99 SDS), delayed bone age 3 10/12 years and impaired growth velocity 3 cm/year. On physical examination he had generalized hypotony, dysmorphic features (microcephaly, hyperthelorism, prominent nasal bridge and glabella, epicanthus, micrognathia, and cleft palate) psychomotor development (IQ <30), and systolic murmur 3/6. Owing to growth retardation GH reserve was investigated by both L-DOPA and glucagon GH provocative tests (GH peak 6.29 and 8.06 ng/ml respectively). Both tests showed GH deficiency. He was on treatment with levothyroxine for 2 years. Thyroid ultrasound showed small shaped thyroid gland while heart and abdominal ultrasonographic evaluations were normal. Brain MRI showed small anterior pituitary gland. Conventional chromosome analysis of peripheral blood lymphocytes showed a karyotype 46,XY. Array CGH was performed showing deletion of chromosome 4 involving 4p16.3p16.2, sized 4.7 Mb associated with WHS. RhGH treatment in a dose of 0.025 mg/kg per day was initiated. At the end of the first year of treatment, the patients growth velocity reached 7.8 cm/year.
Conclusion: We describe the second case of a boy with WHS and GH deficiency. Although WHS associated with GH deficiency is extremely rare it should be included in the workout as GH replacement therapy may promote patients growth.
01 - 03 Oct 2015
European Society for Paediatric Endocrinology