Related Experiment Video

Updated: Aug 20, 2026

High-speed Video Microscopy Analysis for First-line Diagnosis of Primary Ciliary Dyskinesia
05:32

High-speed Video Microscopy Analysis for First-line Diagnosis of Primary Ciliary Dyskinesia

Published on: January 19, 2022

21-Hydroxylase deficiency: clinical features, laboratory profile and pointers to diagnosis in Indian children

Anurag Bajpai1, Madhulika Kabra, P S N Menon

  • 1Division of Pediatric Endocrinology, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India.

Indian Pediatrics
|December 30, 2004
PubMed

Insights

Early recognition of 21-hydroxylase deficiency is crucial, especially in boys, as diagnosis is often missed. This highlights the need for heightened clinical suspicion in pediatric endocrine care.

Area of Science:

  • Pediatric Endocrinology
  • Genetics
  • Metabolic Disorders

Background:

  • 21-hydroxylase deficiency is a common cause of congenital adrenal hyperplasia.
  • The condition presents with diverse clinical manifestations, including salt-wasting, simple virilizing, and non-classical forms.
  • Accurate and timely diagnosis is essential for appropriate management and preventing complications.

Purpose of the Study:

  • To evaluate the clinical features, laboratory findings, and diagnostic challenges of 21-hydroxylase deficiency in children.
  • To assess the diagnostic accuracy and identify potential delays in diagnosis, particularly in salt-wasting forms.
  • To emphasize the importance of early recognition and management in resource-limited settings.

Main Methods:

  • Retrospective analysis of 94 pediatric patients diagnosed with 21-hydroxylase deficiency between 1990 and 2002.
  • Review of clinical presentations, laboratory results, and diagnostic pathways.
  • Comparison of diagnostic age and missed diagnoses between different forms and sexes.

Main Results:

  • Out of 94 patients, 46 had salt-wasting (SW), 44 simple virilizing (SV), and 4 non-classical (NC) forms.
  • Diagnosis of salt-wasting form was missed in 72% of boys and 14.3% of girls.
  • Genital ambiguity was present in all SW girls at birth, yet age at diagnosis did not differ significantly between sexes.
  • 14.5% of 46 XX individuals presented with male-like external genitalia and cryptorchidism.

Conclusions:

  • A high index of suspicion is necessary for diagnosing 21-hydroxylase deficiency, especially the salt-wasting form in boys.
  • Evaluation of cryptorchidism in boys should include consideration of female pseudohermaphroditism.
  • Early recognition and management are vital in regions lacking neonatal screening programs for congenital adrenal hyperplasia.

More Related Videos

One-step Metabolomics: Carbohydrates, Organic and Amino Acids Quantified in a Single Procedure09:28

One-step Metabolomics: Carbohydrates, Organic and Amino Acids Quantified in a Single Procedure

Published on: June 25, 2010

Fingerprinting Cardiolipin in Leukocytes by Mass Spectrometry for a Rapid Diagnosis of Barth Syndrome06:48

Fingerprinting Cardiolipin in Leukocytes by Mass Spectrometry for a Rapid Diagnosis of Barth Syndrome

Published on: March 23, 2022

Related Concept Videos

Inborn Errors of Metabolism01:20

Inborn Errors of Metabolism

Phenylketonuria (PKU) is a protein metabolism disorder characterized by high blood levels of the amino acid phenylalanine. This results from a mutation in the gene responsible for phenylalanine hydroxylase, an enzyme that converts phenylalanine into tyrosine. When this enzyme is deficient, phenylalanine builds up in the blood, leading to symptoms such as vomiting, rashes, seizures, growth deficiency, and severe mental retardation. An early diagnosis and a diet restricting phenylalanine intake...
Pedigree Analysis01:35

Pedigree Analysis

Overview
Type II Diabetes Mellitus III: Clinical Manifestations and Diagnosis01:25

Type II Diabetes Mellitus III: Clinical Manifestations and Diagnosis

Type 2 diabetes mellitus develops gradually and is often asymptomatic in early stages.Clinical ManifestationsWhen symptoms appear, they include fatigue, blurred vision, pruritus, delayed wound healing, and recurrent infections, particularly candidal infections. Peripheral neuropathy may present as numbness or tingling in the extremities. Classic hyperglycemia symptoms—polyuria, polydipsia, and polyphagia—are less common. Most patients are overweight and frequently have associated hypertension...
Type I Diabetes III: Clinical Manifestations01:19

Type I Diabetes III: Clinical Manifestations

Type 1 diabetes mellitus typically presents with rapid-onset symptoms due to the body’s inability to utilize glucose in the absence of insulin. Since insulin is required for glucose uptake into cells, its deficiency leads to hyperglycemia and cellular energy deprivation, resulting in characteristic clinical features.Polyuria and PolydipsiaOne of the earliest, most prominent symptoms is polyuria (excessive urination). When blood glucose concentrations rise above the renal threshold, the kidneys...