ESPE2019 Poster Category 3 Growth and Syndromes (to include Turner Syndrome) (28 abstracts)
Reevaluation of Congenital Growth Hormone Deficiency in Adulthood
Imen Gargouri 1 , Faten Hadjkacem 1 , Wajdi Safi 1 , Dorra Ghorbel 1 , Sana Kmiha 2 , Charfi Nadia 1 , Nabila Rekik 1 , Mouna Mnif 1 , Mongia Hachicha 2 , Thouraya Kamoun 2 & Mohamed Abid 1
1Department of Endocrinology, Sfax, Tunisia. 2Department of Pediatrics, Sfax, Tunisia
Introduction: Congenital growth hormone deficiency (GHD) is a non-exceptional cause of short stature. The objective of our study is to re-evaluate the clinical, biochemical, and evolutive features of congenital GHD in Tunisian south in adulthood.
Subjects/Methods: We underwent a retrospective study of 48 patients over 16 years old affected by GHD over 28 years (1990- 2018).
Resultats: Congenital GHD was revealed in 95,8% of cases by a short stature, noticed at a mean age of 9,4 ±3,8 years (2,25-15,5 years). The sex ratio was 1,8. Growth retardation was severe in 91,7% of cases. A delay in bone development was estimated at 3,7±2 years (1-12,25 years). Pharmacological stimuli concluded that GHD was total in 91,7% of cases. Other hormone deficiencies were noted in 39,6% of cases. MRI was abnormal in 60,4% of cases: anterior pituitary hypoplasia, pituitary stalk defects and ectopia of posterior pituitary in 86,2%, 44,8% and 34,5% of cases respectively. The majority of our patients (91,7%) received recombinant human growth hormone (GH). 13,6% of those are still under GH. The mean therapeutic dose for patients whose treatment had been stopped was 0.64±0.07 IU/kg/week, the mean height gain at the final consultation was 1.8 ±1 standard deviations (SD) (-1, + 3 DS) and only 13% reached their target height. 72,4% of patients who received GH did hit puberty. The biological revaluation of patients receiving GH detected a new hormonal deficiency in 13,6% of cases (corticotrophic, thyrotrophic and gonadotropic axis in 9,1%, 6,8% and 4,5% of cases respectively). Only one patient with an isolated GHD and a normal MRI restored his somatotropic axis.
Conclusion: Although it is a rare condition, missing the diagnosis of DGH will result in poor growth and short stature adults. GHD may or may not persist into adult life and associate or not with other hormonal deficiencies. Patients with childhood onset GHD are usually retested in late adolescence or young adulthood thus the importance of a close collaboration between the paediatric and adult endocrinologists during the transition period.
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