ESPE Abstracts (2023) 97 T9

ESPE2023 Top 20 Posters Section (20 abstracts)

Early metabolic risk factors in children with 21 Hydroxylase Deficiency (21OHD): a case-control study

Diletta Apuzzo , Cristina Moracas , Anna Izzo , Raffaella Di Mase , Paola Lorello , Donatella Capalbo & Mariacarolina Salerno

Pediatric Endocrinology Unit, Department of Translational Medical Sciences, University of Naples Federico II, Endo-ERN Center for Rare Endocrine Conditions, Naples, Italy. Pediatric Endocrinology Unit, Department of Mother and Child, University Hospital Federico II, European Reference Network on Rare Endocrine Conditions (Endo-ERN), Center for Rare Endocrine Conditions, Naples, Italy

Aims: The balance between hypo/hypercortisolism and hypo/hyperandrogenism is the main challenge in clinical management of patients with 21-hydroxylase deficiency (21OH-D). In adults, it has been established that both over and under-treatment might lead to the development cardiovascular risk factors. To date, only a few studies have addressed weather this risk begins in childhood. Aim of our study is to define the presence of early metabolic risk factors prevalence of obesity, body composition and blood pressure in children with 21-OHD in comparison to healthy controls.

Methods: 30 patients with 21-OHD (M/F=12/18), aged 11.4±3.7 years (range 6-18 years) were enrolled in the study. 30 healthy children, matched for age, sex and pubertal status were recruited as controls. At study entry, CAH patients and controls underwent a complete physical examination including measures of weight, waist and hip circumferences, blood pressure (BP), body composition by bioimpedance analysis (BIA), insulin and HOMA-IR.

Results: Compared with healthy controls, children with 21-OHD had increased weight (0.8±1.0vs0.4±0.8 SDS, P<0.001), BMI (0.6±0.7 vs -0.4±1.0, P<0.001), waist circumference (62.2±15.1 vs 58.4±6.0 cm, P=0.2), hip circumference (84.1±13 vs 67.4±10.7 cm, P<0.001), waist/hip ratio (0.88±0.06 vs 0.79±0.17, P<0.001), systolic BP (109.7±10.5 vs 99.7±10.0, P=0.0004), insulin (11.8±6.3 vs 6.6±5.9, P=0.0017) and HOMA-IR (1.8±1.2 vs 1.1±0.9, P=0.0091). BIA assessment revealed that 21-OHD children had a higher percentage of fat mass (FM 32.6±7.0 vs 21.4±2.0, P<0.001) and a lower percentage of lean mass (LM 67.4±7.0 vs 78.6±12.0, P<0.001). No difference was found between patients with 21-OHD salt wasting vs simple virilizing forms.

Conclusions: Preliminary results of our study suggested that 21OHD children have increased prevalence of early metabolic risk factors already in the first years of life, mainly characterized by a tendency toward overweight and obesity and abnormalities in body composition. These results highlight the importance of a careful metabolic evaluation and the need to identify early markers of metabolic risk in 21OHD children.

Volume 97

61st Annual ESPE (ESPE 2023)

The Hague, Netherlands
21 Sep 2023 - 23 Sep 2023

European Society for Paediatric Endocrinology 

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