Introduction: Confirmation of permanent isolated growth hormone deficiency (IGHD) during childhood with subsequent adult transfer is important since such patients may benefit from adult GH replacement.
Methods: A chance encounter with a former patient experiencing symptoms of adult GHD but untreated prompted us to review the final diagnosis and follow-up status of our GH-treated patients with IGHD between 1970 and 2000. Case records were examined for initial/repeat GH stimulation levels (mU/l), pituitary imaging and clinical/auxological data.
Results: Ninety-five patients were originally diagnosed with IGHD, of whom 30 received human GH (hGH) and 65 received recombinant GH (rGH) treatment.
In the hGH group, IGHD was confirmed in four [repeat GH peak <10 (3), autosomal dominant IGHD (1)] and unconfirmed in 26 [initial GH peak <10 (18), 1015 (6) and >15 (2)]; IGHD was considered unlikely in 4/26 initial GH peak >10 & auxology compatible with constitutional delay in growth and adolescence (CDGA), familial short stature (SS), and idiopathic SS with peak GH >15 in 2.
31/65 in the rGH group had their original IGHD diagnosis re-evaluated. Repeat peak GH was ≤10 (6), >1020 (4) and >20 (21). On the basis of clinical assessment, GH peak (initial <10, repeat <20) and imaging evidence, a final diagnosis of IGHD was considered secure in 7, excluded in 28 and changed in 28 (CDGA (14), familial SS (5), idiopathic SS (5), psychosocial (2), chronic disease (2)). IGHD was unconfirmed in a further 30, in whom initial peak GH was <10 (6), 1015 (10) and >15 (14). Five of 11 patients with confirmed IGHD have documented adult endocrine follow-up.
Conclusions: Most patients treated with rGH for IGHD had normal variant short stature, with inadequate confirmation of the diagnosis. The rGH group pose a particular challenge in terms of tracing and re-evaluating for adult GHD.
03 - 05 Nov 2010
British Society for Paediatric Endocrinology and Diabetes