Congenital Adrenal Hyperplasia, the Origin of Combined Infertility: A Case Report and a Review of Literature

Nardin Aslih Adrian Ellenbogen

doi:10.4172/2161-038x.1000142

Abstract

Congenital Adrenal Hyperplasia (CAH) – a complex and heterogeneous group of conditions is inherited as Autosomal Recessive (AR) disorders. The resultant deficiencies in one of the five enzymes involved in adrenal steroidogenesis lead to defects in the steroidogenic pathways and biosynthesis of cortisol, aldosterone and androgens. Precursor steroids proximal to the blocked step accumulate and can be shunted into other metabolic pathways, particularly that of androgen biosynthesis. CAH due to 21-Hydroxylase deficiency is traditionally separated into two clinical groups: the Classical form (CCAH), which is further separated into salt-wasting (75%) and simple-virilizing (25%) phenotypes, and the Nonclassical form (NC-CAH). They are differentiated by their hormonal profile, predominant clinical features and age of appearance. CAH can affect fertility in females due to inadequate introitus, oligomenorrhea and elevated progesterone levels. Many authors reported an effect on male fertility as well. This editorial describes a case report of combined infertility due to mutations in the CYP21A2 gene and a review of literature on this subject.

Highlights

Adrenal gland enlargement was first described by the Napolitan anatomist De Crecchio [1]
The resultant deficiencies in one of the five enzymes involved in adrenal steroidogenesis lead to defects in the steroidogenic pathways and biosynthesis of cortisol, aldosterone and androgens
Phenotype: Congenital Adrenal Hyperplasia (CAH) due to 21-OH deficiency is traditionally separated to two clinical groups: the Classical form (C-CAH), which is further separated into salt-wasting (75%) and simple-virilizing (25%) phenotypes, and the Non-classical form (NC-CAH)

Summary

Introduction

Adrenal gland enlargement was first described by the Napolitan anatomist De Crecchio [1]. Hormone (ACTH) stimulus with the involvement of five key enzymes : P450scc, 3β-OH dehydrogenase (3β-HSD), 17α hydroxylase (17α-OH), 21-hydroxylase (21-OH), 11β-hydroxylase (11β-OH) [3,4] (Figure 1). These steroidogenic enzymes are members of the cytochrome P450 family of oxidases. The resultant deficiencies in one of the five enzymes involved in adrenal steroidogenesis lead to defects in the steroidogenic pathways and biosynthesis of cortisol, aldosterone and androgens. Defects of the enzymes 21-OH and 11β-OH only affect adrenal steroidogenesis, whereas 17α-OH and 3β-HSD deficiency impact steroid biosynthesis in the gonads. There are five types of CAH (Table 1) [7,8]

Males Femal es

NC NC NC NC

Childhood Adult

Findings

Other Less Frequent Forms of CAH