Clinical Presentation of Congenital Adrenal Hyperplasia in Selected Multiethnic Paediatric Population
- Author:
Subashini Chellappah Thambiah
;
Zalinah Ahmad
;
Zarida Hambali
;
Malina Osman
;
Munira Mohd Zain
;
Fuziah Md Zain
;
Janet Hong Yeow Hua
- Publication Type:Journal Article
- Keywords:
Congenital adrenal hyperplasia;
21-hydroxylase;
Salt wasting;
Multiethnic;
Malaysia
- MeSH:
Adrenal Hyperplasia, Congenital
- From:Malaysian Journal of Medicine and Health Sciences
2015;11(1):77-83
- CountryMalaysia
- Language:English
-
Abstract:
A clinical descriptive study was done to determine the sociodemographic, laboratory and clinical
characteristics of patients with congenital adrenal hyperplasia (CAH) referred to Hospital Putrajaya, a
tertiary endocrine centre in Malaysia. Electronic laboratory data of 51 CAH patients were obtained. The
demographics and clinical details of the study population were acquired from a questionnaire completed
by parents of participants. There were 25 males (49%) and 26 females (51%), of which, 58.8% were
Malays. Median age of participants was 4 years whilst median age at diagnosis of CAH was two years.
Parental consanguinity was documented in three patients (5.9%). Patients originated from Johor (19.6%),
Selangor (19.6%), Negeri Sembilan (17.6%) and Kedah (13.7%). Majority of patients were diagnosed
after one week of life (80.4%) although more females were diagnosed under the age of one week
compared to males (p=0.041). Most females presented with ambiguous genitalia (42.3%) [p=0.001]
whereas 72% of males presented with salt wasting (p=0.003). No significant associations between race
and all other variables, though interestingly three Malay patients presented with ambiguous genitalia
and hypertension. Equal gender distribution noted as expected in an autosomal recessive condition,
although not in keeping with other Asian countries. Early diagnosis in females attributed to obvious
genital ambiguity at birth. Varied clinical presentation, although in minority, necessitates genetic studies
for prompt diagnosis and treatment. Considering that majority of patients presented with salt wasting
and the age at diagnosis was delayed, the introduction of a neonatal screening programme is essential
in Malaysia.
- Full text:P020150604464511690330.pdf
