Purpose 3β-hydroxysteroid dehydrogenase type 2 deficiency (3βHSD2D) is a very rare
variant of congenital adrenal hyperplasia (CAH) causing less than 0.5% of all CAH. The aim …

Disorders of sex development (DSD) are defined as 'congenital conditions in which the
development of chromosomal, gonadal, or anatomical sex is atypical'[Lee et al., Pediatrics …

Introduction: Birth defects are a significant concern since they can lead to permanent
disability and death. This study comprehensively reviews the prevalence and patterns of …

Background We describe the phenotypic spectrum and timing of diagnosis and
management in a large series of patients with disorders of sexual development (DSD) …

Objective: To determine the classification and etiological diagnosis of children presented
with ambiguous genitalia/atypical genitalia according to the newer classification system of …

Context and objectives 5-α reductase deficiency is a rare 46, XY disorder of sex
development. We present detailed phenotypic and genotypic features of a cohort of 24 …

Issues of gender ambiguity have been discussed over time from both Islamic and medical
perspectives. In Islam, these issues are typically considered in the context of khunūthah …

Consanguinity increases the risk of hereditary diseases including disorders of sex
development (DSD). There are minimal data on DSD in the highly consanguineous …

Examination of genitalia should be an essential part of newborn assessment. Early detection
of congenital disorders is essential to begin appropriate medical or surgical therapy and to …

Background One of the most common types of congenital adrenal hyperplasia is an
autosomal recessive disorder with 21-hydroxylase deficiency. The classical form, defined by …