ESPE Abstracts (2015) 84 P-3-1102

Clinical Characteristics of Children with Congenital Combined GH Deficiency without Associated Syndrome in Belgium

Renate Zeevaerta,b, Franciska Verlindec, Muriel Thomasc, Francis De Zegherd, Martine Coolse, Claudine Heinrichsf, Véronique Beauloyeg, Annick Franceh, Marie-Christine Lebrethoni & Guy Massab

aUZ Brussel, Brussel, Belgium; bJessa Ziekenhuis, Hasselt, Belgium; cBESPEED, Brussel, Belgium; dUZ Leuven, Leuven, Belgium; eUZ Gent, Gent, Belgium; fQFCUH, Bruxelles, Belgium; gCliniques Universitaires Saint Luc, Bruxelles, Belgium; hUZA, Antwerpen, Belgium; iCHR Citadelle, Liège, Belgium

Background: Despite the fact that pituitary stalk interruption syndrome (PSIS) is a frequent finding in children with combined GH deficiency (CGHD), clinical data are still limited and the growth response to GH treatment has not been evaluated in comparison with CGDH with a normal stalk.

Objective and hypotheses: To report the clinical and hormonal findings and evaluate the short term growth response to GH in Belgian children with congenital non-syndromatic form of CHGD presenting with and without PSIS at MRI.

Method: Fifty-nine children with a congenital form of CGHD without additional cerebral anomalies, who were started on GH between January 1996 and December 2011, were retrieved from the national GH database. MRI, hormonal and growth data in the first year of GH therapy were evaluated.

Results: In 36 (61%) of the patients, PSIS was diagnosed on MRI. In patients with and without stalk involvement the median peak of GH levels after stimulation were similar (1.6 and 1.5 ng/ml respectively), while TSH deficiency was present in respectively 97 and 82% of cases, ACTH deficiency in 78 and 52% (P=0.04), and LH/FSH deficiency in 61 and 35% (P=0.04). Median age at start of GH was respectively 5.6 and 4.9 years. The mean height gain in the first year of GH treatment was 11.8 cm (±4.0 cm) or 1.2 SD (±0.77 SD) and 11.0 cm (±5.7 cm) or 0.77 SD (±1.0 SD), which remained non-significant after adjustment for age at start GH.

Conclusion: Pituitary stalk anomalies are a frequent finding in patients with congenital non-syndromatic CGHD. Compared to congenital CGHD patients with a normal stalk, PSIS is associated with more frequent occurrence of ACTH and LH/FSH deficiencies, but a similar initial growth response to GH treatment.

Funding: This work was supported by the BESPEED.