ESPE Abstracts

Background: Growth deficiency is a common symptom of many genetic syndromes. 13q deletion is a very rare genetic syndrome described in almost 200 cases. Growth reduction is a constant symptom along with mental retardation, congenital defects varying according to the deleted region of chromosome 13.

Objective and hypotheses: The aim of this paper was to present the case of a 12 year old patient with an interstitial deletion 13q (22.3–31.1), important growth delay and somatotropine insufficiency treated with hrGH. The patient is a first child of young non-consanguineous Polish parents. They had a history of a miscarriage in the first trimester. The patient was born at term with 2550g weight (<10th c), 47 cm length (10th c). In the neonatal period she showed failure to thrive, delayed psychomotor development and reduced muscle tone. Before one year of age she was diagnosed with 13q deletion syndrome (karyotype: 46XX, del 13q (22.3–32.?). She is a patient of numerous medical clinics for her diverse needs (dysgammaglobulinemia, fructose intolerance, Asperger Syndrome).

Method: She has been a patient of the Endocrinology and Diabetology Clinic of the Children’s Health Memorial Institute since the age of 3 years. Growth delay is a constant symptom of the 13q deletion syndrome therefore hormonal tests haven’t been performed. Visits were discontinued from 2008 to 2013. At the age of 11 years and 7 months she appeared again presenting facial dismorphic features, scoliosis, lumbar hyperlordosis, weak postural and limb muscles, fifth toe clinodactyly, Ax1, Pub1, Th1, Me (−). Height: 119.0 cm, hSDS₀:−5.11, hSDS₀-mpSDS:−4.25, GV₀:2.7 cm/year, IGF-1:142 ng/dl (N), BA: 9–10 years. GH secretion was low in 3 tests performed, i.e.: maximum GH concentrations were: in the night profile: 3.63 ng/ml, arginine test: 0.9 ng/ml, glucagone test: 7.47 ng/ml. Pituary MRI: dimensions AP 6 mm, h: 3 mm, transverse 12 mm), without pathological enhance after gadoline administration. She was diagnosed with somatotropine deficiency. Other growth delay causes were excluded.

Results: With the permission of the Growth Hormone Treatment Coordination Group, in terms of a trial the patient was started with hrGH in a doses of 0.5 U/kg per week (May 12- Dec. 9), and afterward 0.34 U/kg per week. After 10 months we achieved a GV improvment from 2.7 cm/year to 7.2 cm/year and centile position change from hSDS₀:−5.11 to hSDS₁:−4.89, ΔhSDS:0.22. After 3 months of rhGH therapy the girl was supplied with orthopedic support in terms of prevention of major back worsening. In the Genetics Department of The Children’s Health Memorial Institute a CGH array assay showed the 13q deletion containing 34 genes, including Waardenburg type 4A Syndrome and Hirschprung Syndrome, which she doesn’t display the symptoms of.

Conclusion: hrGH treatment might bring satisfactory results in children despite growth deficiency being a standard symptom in 13q deletion syndrome. This is the second reported patients undergoing rhGH treatment and the oldest one.