Quality of Life in Children Diagnosed With Non-classic Congenital Adrenal Hyperplasia

Abstract

BackgroundNon-classical congenital adrenal hyperplasia (NC-CAH) is a chronic disease characterised by excessive androgen production that may negatively affect the quality of life (QoL) of affected patients. Pediatric Quality of Life Inventory 4.0 (PedsQL™) is a validated tool to assess health-related QoL (HRQoL). MethodsA cross-sectional study including 19 patients with NC-CAH was carried out in the pediatric endocrinology department. NC-CAH patients who agreed to participate were included. Anthropometric data was collected. PedsQL™ was applied to the patients and their parents. Patients were divided into four groups according to age: 2-4, 5-7, 8-12, and 13-18 years old. The control group consisted of healthy individuals from the instrument's validation studies for the Portuguese population and the standard control population used in the PedsQL™ validation study. ResultsThe only difference found concerns the parents' score results for children aged 8-12, which showed physical health and emotional dimension scores significantly higher (86.16±9.86 vs. 68.90±23.02 p=0.004, 69.17±14.14 vs. 65.82±19.24 p=0.004), while psychosocial health's score and total scale score were significantly lower than the control group (59.99±9.90 vs. 69.34±14.07 p=0.047, 73.11±4.65 vs. 78.86±16.61 p=0.017). ConclusionHRQoL scores are not negatively affected by NC-CAH in most group ages, with the exception of the parents' reports on HRQoL for children aged 8-12. Further studies with a greater number of patients are needed to determine the impact of this chronic disease on the HRQoL of children.

Clinical-laboratory characteristics, psychological assessment and quality of life in patients with non-classical congenital adrenal hyperplasia

“…Ferreirа и съавт. не откриват значима разлика в качеството на живот при деца с НВНХ във възрастовия диапазон между 2 и 18 години, но при пациентите между 8 и 12 години се отчита влошено психосоциално здраве, емоционално и училищно функциониране (16). Brener и съавт.…”

“…Менструалните нарушения, включително олигоменорея или вторична аменорея, се установяват често при девойки с НВНХ по-висок Ferriman-Gallwey скор спрямо здравите контроли (18,7±5,3 (15). Проучванията върху QoL и психологичния статус при деца с НВНХ са много оскъдни и с противоречиви резултати (16,17), но всички доказват наличието на значима връзка между социалното възприятие, емоционалната нестабилност и влошеното QoL при пациентките с дефицит на 21-хидроксилаза и съпътстващ хиперандрогенизъм (18,19). Андрогенният ефект се асоциира с развитие на вирилизация и дефеминизация, множество съпътстващи заболявания, включително и психиатрични (20), с нарушено психологическо здраве сред пациенти с НВНХ (21).…”

Non-classic form of congenital adrenal hyperplasia

“…Jelena Miolski 1,2 , Maja Ješić 2,3 , Vladislav Bojic 3 , Smiljka Kovacevic 2,3 , Jelena Blagojevic 2,3 , Nevena Didic 3 , Vera Zdravkovic 2,3…”

“…According to the clinical picture and the level of residual activity of the enzyme 21α-hydroxylase, the disease is divided into classic and non-classic forms (1). The non-classic form of congenital adrenal hyperplasia (NCCAH) is characterized by a higher frequency (0.1-0.2%) in general population, a later onset of symptoms, a milder clinical presentation and increased activity of steroidogenesis enzymes compared to the classic form of the disease (2,3). The non-classic form of the disease is more often diagnosed among women, due to the difficult-to-recognize signs of androgen excess in men (4).…”