A decrease in fasting FGF19 is associated with the development of NAFLD in obese adolescents. A decrease in fasting FGF19 levels may be a new important risk factor for NAFLD and the metabolic syndrome in adolescents. Further studies are needed to explain whether exogenous delivery of FGF19 might be therapeutically beneficial.
We present a 7-year-old girl with a 2-year history of decelerated growth rate and cushingoidal obesity, upon admission presenting with fi xed hypertension. Cyclic hypercortisolemia with inhibited baseline and post-CRH stimulation ACTH level pointed to primary adrenal hypercortisolemia. Ultrasound, computed tomography (CT) and magnetic resonance imaging (MRI) showed normal adrenal glands. 131 J-labeled cholesterol scintiscan showed a weak but slightly more expressed tracer uptake in the left adrenal gland. Cushing syndrome concomitant with isolated primary pigmented nodular adrenocortical disease (PPNAD) was diagnosed. After hypotensive pretreatment, a left adrenalectomy was performed, resulting in normalization of corticoadrenal function, blood pressure, Cushing features and growth rate. Histopathology confi rmed PPNAD. In the course of infection, corticoadrenal function showed absence of adrenal reserve, and adrenal crisis. Hydrocortisone (HC) therapy, followed by HC supplementation was introduced. Four years later, a contralateral adrenalectomy was performed and total HC supplementation was introduced.Causes and consequences of abandoning one-stage bilateral adrenalectomy recommended in PPNAD are reviewed.
Genotype–phenotype correlation in patients with Prader–Willi syndrome (PWS) has still not been fully described. We retrospectively analysed data of 147 patients and compared groups according to genetic diagnosis: paternal deletion of chromosome 15q11-q13 (DEL 15, n = 81), maternal uniparental disomy (UPD 15, n = 10), excluded DEL 15 (UPD 15 or imprinting centre defect, UPD/ID, n = 30). Group DEL 15 had an earlier genetic diagnosis and recombinant human growth hormone (rhGH) start (p = 0.00), with a higher insulin-like growth factor 1 (IGF1) level compared to group UPD/ID (p = 0.04). Among perinatal characteristics, there was only a tendency towards lower birth weight SDS in group UPD 15 (p = 0.06). We also compared data at rhGH start in relation to genetic diagnosis age—group 1: age ≤9 months, group 2: >9 months ≤ 2 years, group 3: > 2 years. Group 1 had the earliest rhGH start (p = 0.00), with lower body mass index (BMI) SDS (p = 0.00) and a tendency towards a higher IGF1 level compared to group 3 (p = 0.05). Genetic background in children with PWS is related to time of diagnosis and rhGH start, with a difference in IGF1 level before the therapy, but it seems to have little impact on perinatal data. Early genetic diagnosis leads to early rhGH treatment with favourable lower BMI SDS.
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