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HRQoL and Urinary Symptoms in Patients With CAH 21-Hydroxylase Deficiency

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The following is a summary of “Long-term quality of life and surgical outcome of female congenital adrenal hyperplasia patients,” published in the November 2024 issue of Pediatrics by Leung et al.    


Congenital adrenal hyperplasia (CAH) is a genetic disorder affecting adrenal hormone production, which leads to various health challenges for affected individuals, particularly females.  

Researchers conducted a prospective study to evaluate the long-term QoL and surgical outcomes of female patients with CAH.  

They administered health-related quality of life (HRQoL) questionnaires (WHO-5, SF-36), lower urinary tract symptoms (ICIQ-FLUTS), and sexual outcomes (ICIQ-FLUTSsex) to patients with adult CAH. Pediatric patients and their parents completed WHO-5, PedsQL-4.0-SF15-Generic Core Scales, and ICIQ-CLUTS.  

The results showed 6 adults (46%) and 7 children (54%) with 21-hydroxylase deficiency, ages ranging from 8 to 53 years, and 11 (85%) had undergone feminizing genitoplasty. No significant difference was observed in the HRQoL and ICIQ-FLUTS scores in adults. The mean ICIQ-FLUTSsex was lower in adult patients (7.3 ± 2.9) than in controls (2.9 ± 3.4, P=0.06). A significant negative correlation was found between the age at first surgery and role limitations due to emotional problems in SF-36 (r = −0.98, P=0.02). No significant difference was observed in the pediatric group in HRQoL or ICIQ-CLUTS scores. Parents reported significant differences in school functioning (73.8 ± 18.9 vs. 91.2 ± 18.7, P=0.02) and emotional functioning (80.3 ± 15.9 vs. 94.7 ± 12.7, P=0.007).  

They concluded that adult patients with CAH did not show impaired h HRQoL or long-term ICIQ-FLUTS. However, for adult patients’ healthcare providers should focus more on addressing ICIQ-FLUTSsex.  

Source: onlinelibrary.wiley.com/doi/abs/10.1111/jpc.16724

The post HRQoL and Urinary Symptoms in Patients With CAH 21-Hydroxylase Deficiency first appeared on Physician's Weekly.


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