exudates and Adrenal-Hyperplasia--Congenital

Congenital adrenal hyperplasia (CAH) is the commonest cause of ambiguous genitalia for female newborns and is one of the conditions under the umbrella term of "Disorders of Sex Development" (DSD). Management of these patients require multidisciplinary collaboration and is challenging because there are many aspects of care, such as the most appropriate timing and extent of feminizing surgery required and attention to psychosexual, psychological, and reproductive issues, which still require attention and reconsideration, even in developed nations. In developing nations, however, additional challenges prevail: poverty, lack of education, lack of easily accessible and affordable medical care, traditional beliefs on intersex, religious, and cultural issues, as well as poor community support. There is a paucity of long-term outcome studies on DSD and CAH to inform on best management to achieve optimal outcome. In a survey conducted on 16 patients with CAH and their parents in a Malaysian tertiary center, 31.3% of patients stated poor knowledge of their condition, and 37.5% did not realize that their medications were required for life. This review on the research done on quality of life (QOL) of female patients with CAH aims: to discuss factors affecting QOL of female patients with CAH, especially in the developing population; to summarize the extant literature on the quality of life outcomes of female patients with CAH; and to offer recommendations to improve QOL outcomes in clinical practice and research.

Topics: Adrenal Hyperplasia, Congenital; Developing Countries; Female; Health Knowledge, Attitudes, Practice; Humans; Malaysia; Patient Satisfaction; Quality of Life; Treatment Outcome; Vietnam

To explore the impact of congenital adrenal hyperplasia (CAH) on body image in Malaysian females with CAH and to understand the perspectives of these young women and their parents toward feminizing genitoplasty (FG).. Multi-center cross-sectional study.. Two tertiary medical centers in Malaysia.. A total of 59 patients with CAH who were raised as females and more than 10 years old, and their parents.. The CAH respondents completed the validated and translated Body Image Disturbance Questionnaires (BIDQ). All CAH respondents and their parents underwent semi-structured interviews to explore their views on FG.. Body image disturbance score and perspectives on FG.. The 59 CAH respondents consisted of 12 children, 29 adolescents, and 18 adults. The majority were of Malay ethnicity (64.4%) with classical CAH (98.3%) and had undergone FG (n = 55, 93.2%). For the BIDQ scores, the median score (interquartile range) for general body image was 1.29 (0.71), range 1.00-3.29, whereas the genital appearance score was 1.07 (0.39), range 1.00-4.29, revealing a greater concern for general body parts over genitalia. With regards to FG, it was perceived as necessary. Infancy and early childhood were perceived as the best timing for first FG by both respondents and parents, most preferring single-stage over 2-stage surgery.. General body appearance concerns were greater than for genital appearance, with more impact on the patients' lives. Contrary to much international opinion, feminizing surgery was perceived as necessary and appropriate by CAH respondents and their families, and should be offered in infancy or early childhood. Future qualitative studies are recommended.

Topics: Adolescent; Adrenal Hyperplasia, Congenital; Adult; Body Image; Child; Cross-Sectional Studies; Female; Genitalia, Female; Humans; Malaysia; Male; Parents; Surveys and Questionnaires; Young Adult

This study investigates the health-related quality of life (HRQOL) of female patients with congenital adrenal hyperplasia (CAH) in Malaysia. The objectives were to attain socio-demographic and medical data on these Malaysian females with CAH and establish their health-related quality of life (HRQOL) in comparison to age matched diabetic controls.. A cross-sectional study was conducted over 6 months in the two main tertiary centres for CAH patients in Malaysia. Participants including 59 female-raised CAH patients (mean age ± SD = 16.3 ± 4.2 years, range 10-28 years) compared to 57 age-matched female diabetic patients (mean age ± SD = 16.5 ± 3.4 years, range 10-26 years). Socio-demographic and medical profiles was obtained through semi-structured interviews. HRQOL of participants were evaluated utilising validated, Malay translated questionnaires which were age appropriate: Pediatric Quality of Life Inventory (PedsQL v4.0) scales for Child (8-12) and Adolescent (13-18) and Medical Outcome Survey 36-item Short Form version. These were then compared to the diabetic controls.. The CAH participants consisted of children (ages 10-12 years, n = 12), adolescents (ages 13-17 years, n = 29) and adults (≥ 18 years, n = 18). The majority were Malays (64.4%) and had salt-wasting CAH (67.8%). There were no significant differences between the total mean score of the HRQOL of the combined children and adolescents CAH group (total mean score ± SD = 81.6 ± 17.9, 95% CI = 75.6-87.6) when compared to age-matched diabetic patients (total mean score ± SD = 80.8 ± 11.0, 95% CI = 77.0-84.5, P = 0.81, effect size = 0.05); no significant difference between the adult CAH and diabetic controls in the physical [median score (IQR) CAH vs diabetics; 49.3 (11.4) vs. 50.2 (6.1), P = 0.60, effect size = 0.09] and the mental composite scores [median score (IQR) CAH vs. diabetics; 47.8 (14.1) vs. 50.0 (10.8), P = 0.93, effect size = 0.01].. The HRQOL of the Malaysian CAH cohort were comparable to the diabetic controls.

Topics: Adolescent; Adrenal Hyperplasia, Congenital; Adult; Age Factors; Case-Control Studies; Child; Cross-Sectional Studies; Diabetes Mellitus; Female; Humans; Malaysia; Quality of Life; Surveys and Questionnaires; Young Adult

Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21-OHD) is a common autosomal recessive disorder. Our objective was to identify the 21-hydroxylase active gene, CYP21A2 mutations in Malaysian 21-OHD patients using different techniques.. Blood samples were obtained from 97 Malaysian 21-OHD patients, which included 40 siblings from 19 families. We used various techniques which include restriction enzyme digestion, Southern blot, multiple ligation-dependent probe amplification (MLPA) and sequencing to elucidate CYP21A2 mutations.. Homozygous and compound heterozygous mutations were identified in 95 of the 97 patients (98%). Deletions of CYP21A2 were found in 43 patients (44.3%). Deletions identified in CYP21A2 gene were the usual 30-kb deletion comprising 3'UTR CYP21A1P, C4B and 5'CYP21A2, complete deletion of CYP21A2 gene, deletion in exons 1-3, exons 1-6 and exons 1-8 of CYP21A2. The common mutations identified in CYP21A2 gene were deletion/conversion (22.6%), p.R356W (22%), IVS2-13A/C>G (21.3%), p.I172N (5.3%), p.Q318X (5.3%), and p.P30L (1.03%). This is the first report of the mutation frequency in CYP21A2 gene among the Malay ethnic group. Two novel mutations, c.Y97insT and p.L345P were identified in our patients. Our results show good phenotype-genotype correlation in most of the cases, although clinical variations were identified in some patients.. The study has found various mutations including deletions in CYP21A2 gene in Malaysian patients with 21-hydroxylase deficiency using the MLPA technique that is being widely used in present laboratory settings.

Topics: Adrenal Hyperplasia, Congenital; Base Sequence; Child; Child, Preschool; DNA Mutational Analysis; Family; Female; Gene Frequency; Humans; Infant; Malaysia; Male; Multiplex Polymerase Chain Reaction; Mutation; Siblings; Steroid 21-Hydroxylase