ESPE Abstracts (2015) 84 P-3-1043

GH Deficiency in a Patient with 4p16 Deletion: An Infrequent Association with Wolf-Hirschhorn Syndrome

Ioulia Polychronia, Maria Xatzipsaltia, Helen Fryssirab & Lela Stamogiannoua

aFirst Department of Pediatrics, P. & A. Kyriakou Children’s Hospital, Athens, Greece; bDivision of Medical Genetics, Aghia Sophia Children’s Hospital, National and Kapodistrian University of Athens, Athens, Greece

Background: Wolf–Hirschhorn 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 4p16.3–p16.2, 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 patient’s 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.

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