HORMONAL AND METABOLIC OUTCOMES OF PAEDIATRIC CONGENITAL ADRENAL HYPERPLASIA
Keywords:
HYPERPLASIA, PAEDIATRIC, ADRENALAbstract
INTRODUCTION
Individuals with congenital adrenal hyperplasia are exposed to hyperandrogenism in utero and need a lifelong replacement of supraphysiological corticosteroids and mineralocorticoids. Hence, they are at risk for complications from both the disease and treatment.
METHODOLOGY
Sixty-eight paediatric patients with CAH were included in a retrospective cross-sectional study. We analysed the clinical and biochemical profiles at the initial presentation and the latest visit. Information was extracted from a digital database.
RESULT
Most patients were female (51%), Malay (82%), and diagnosed with salt-wasting CAH (77.9%). Of these, 76.3% received the diagnosis after the first week of life, including 10.3% of which were diagnosed after the first year of life. Central precocious puberty was seen in 20.5% at a mean age of 6.1 ± 1.79 years. Testicular adrenal rest tumor was detected in 10.3% at a mean age 9.8 ± 4.6 years. Overweight and obesity was seen in 36.7%. Hypertension, seen in 5.8%, was detected at mean age of 5.5 ± 2.1 years; while dyslipidemia in 4.4% was diagnosed at a mean age of 10 ± 4 years. None had diabetes. Eight females underwent surgical feminizing surgeries at a mean age of 6.1 ± 3.4 years. Both genders exhibited a short final height (FH) at completion of growth. The mean FH and final height standard deviation score (FHSDS) were 155.6 ± 4.4 cm and -2.53 ± 0.71 in males, and 142.0 ± 6.9 cm and -4.64 ± 2.98 in females, respectively. Mean bone age advancement was +2.4 ± 1.6 years in males and +1.2 ± 0.8 years in females.
CONCLUSION
Most of the patients had a late diagnosis, hence a high index of suspicion for the diagnosis is crucial during initial evaluation. Close monitoring is important while ensuring compliance to the therapy is important as metabolic and hormonal complications start at pre-pubertal age.
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Copyright (c) 2024 Siti Salamah Mohd Idris, Lim Poi Giok, Arini Nuran Idris, Nalini S Selveindran, Janet Hong Yeow Hua
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