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.
Abstract

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