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Growth Pattern and Clinical Profile of Indian Children with Classical 21-Hydroxylase Deficiency Congenital Adrenal
H Meena1, Manisha Jana2, Vishwajeet Singh3
1Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India.
Insights
Growth in children with congenital adrenal hyperplasia (CAH) is most affected during infancy and puberty. Testicular adrenal rest tumors are common in boys with CAH, requiring regular ultrasounds.
Area of Science:
- Pediatric Endocrinology
- Genetics and Genetic Diseases
- Metabolic Disorders
Background:
- Congenital adrenal hyperplasia (CAH) is a group of inherited genetic disorders.
- 21-hydroxylase deficiency is the most common form of CAH.
- CAH affects growth and development, and can lead to complications like testicular adrenal rest tumors.
Purpose of the Study:
- To prospectively assess growth parameters in children with 21-hydroxylase deficiency CAH.
- To profile clinical data and evaluate testicular adrenal rest tumors in affected boys.
Main Methods:
- Prospective follow-up of 81 children (aged 0-18 years) with CAH for 6 months to 2 years.
- Data collection included anthropometry, biochemical parameters, bone age X-rays, and scrotal ultrasounds for testicular adrenal rest tumors in boys.
- Children were categorized by CAH type (salt-wasting or simple virilizing).
Main Results:
- Overall height SDS was -0.6, with greater compromise in infants, older children (>10 years), and those with salt-wasting CAH.
- Short stature (31%) and reduced growth velocity (55.6%) were common.
- Bone age advancement was seen in 46% of children.
- Testicular adrenal rest tumors were detected in 23.8% of boys.
Conclusions:
- Infancy and peri-pubertal periods are most vulnerable for growth compromise in pediatric CAH.
- Diligent growth monitoring is crucial for children with CAH.
- The high prevalence of testicular adrenal rest tumors necessitates annual ultrasounds in the follow-up protocol for boys with CAH.
Objective:
To prospectively assess the growth parameters in a cohort of children with classical 21-hydroxylase deficiency congenital adrenal hyperplasia, comprehensively profile their clinical data and evaluate the prevalence of testicular adrenal rest tumors among affected boys.
Methods:
Children with congenital adrenal hyperplasia aged 0-18 y were prospectively followed up for six mo to 2 y (mean follow-up: 17 ± 6 mo). Baseline data were obtained by interviewing parents and from clinic records. Anthropometry, biochemical parameters, X-ray for bone age, and ultrasound scrotum (in boys >5 y) for testicular adrenal rest tumors were performed.
Results:
Among the 81 children (32 boys, 49 girls), two-thirds (57) had salt-wasting and the remaining had simple virilizing type and the mean age at enrolment was 6.2 ± 4.9 y. The overall height standard deviation score was -0.6 (-2.0 to 0.8) with a greater compromise in children in the age groups 0-2 y and > 10 y and those with salt-wasting type. Overall, 25 (31%) children had short stature and 45 (55.6%) had growth velocity below the reference range. Bone age advancement beyond 2 standard deviation score was seen in 46% of children assessed. Testicular adrenal rest tumors were detected in 5 out of 21 boys (23.8%).
Conclusions:
The auxological pattern observed in this homogenously-managed Indian pediatric cohort with congenital adrenal hyperplasia highlights that infancy and peri-pubertal age groups are the most vulnerable, reiterating the importance of diligent growth monitoring. The high prevalence of testicular adrenal rest tumors merits the incorporation of annual ultrasound in the follow-up protocol of these patients.
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