Academic Journals Database
Disseminating quality controlled scientific knowledge

Non-classic congenital adrenal hyperplasia. Clinical experience versus clinical guidelines

ADD TO MY LIST
 
Author(s): Amy S Shah | Philippe F. Backeljauw

Journal: Endocrinology Studies
ISSN 2038-9515

Volume: 1;
Issue: 2;
Start page: e11;
Date: 2011;
Original page

ABSTRACT
The ability to diagnose non-classic congenital adrenal hyperplasia (NC-CAH) has improved drastically over the past decade due to standardization of laboratory assays and refinement of molecular studies. However, the optimal clinical management for this patient population is still evolving. Thus, we describe the clinical presentation and diagnostic approach of children with non-classic congenital adrenal hyperplasia (NC-CAH). A retrospective chart review was done to identify all subjects diagnosed with late-onset CAH or NC-CAH at a single institution during the last decade. Eighteen subjects were identified. Fourteen were diagnosed as NC-CAH 21-hydroxylase deficiency and four with NC-CAH 3-beta hydroxysteroid dehydrogenase (3βHSD) deficiency. The approach to evaluation was different according to the provider. Re-evaluation of steroid hormone concentrations using updated diagnostic criteria revealed one patient had ACTH-stimulated hormone concentrations consistent with classic CAH (non-salting wasting variant) and four patients initially thought to have NC-CAH 3βHSD had steroid hormone concentrations consistent with premature adrenarche. Age and clinical presentation did not differentiate subjects with NC-CAH from those with premature adrenarche. Skeletal age was ≥ to 2 standard deviations advanced only in those patients with NC-CAH. Variations in the diagnostic approach to evaluate children for NC-CAH exist. We provide a practical algorithmic recommendation, incorporating the most recent diagnostic guidelines, to aid the clinician in the evaluation of this disorder.
RPA Switzerland

RPA Switzerland

Robotic process automation

    

Tango Jona
Tangokurs Rapperswil-Jona