The adolescent period is characterised by fundamental hormonal changes, which affect sex
steroid production, cortisol metabolism and insulin sensitivity. These physiological changes …

Classic congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency results in
severe cortisol and aldosterone deficiency, leading to persistent adrenal stimulation and …

Abstract Background Volumetric Absorptive Microsampling (VAMS) is emerging as a
valuable technique in the collection of dried biological specimens, offering a potential …

Ambiguous genitalia can be associated with disorders of sex development (DSD). DSD
occurs when a person is born with discordant genetic, gonadal, or anatomic sex. Here we …

Introduction Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency (CAH)
is a rare genetic condition characterized by cortisol deficiency and excess adrenal …

Background Congenital adrenal hyperplasia (CAH) encompasses a rare group of autosomal
recessive disorders, characterised by enzymatic defects in steroidogenesis. Heterogeneity …

El déficit de 21-hidroxilasa es la forma más frecuente de hiperplasia suprarrenal congénita.
El objetivo del tratamiento es garantizar un adecuado crecimiento y evitar las …

Ambiguous genitalia in a newborn are the clinical sign of atypical sexual development of the
external genitalia in utero. This condition is rare and can result from various underlying …

Introduction: Congenital adrenal hyperplasia (CAH) is an autosomal-recessive condition
primarily caused by 21-hydroxylase deficiency. It is the most common cause of ambiguous …

The most common cause of congenital adrenal hyperplasia (CAH) is 21-hydroxylase
deficiency. Our purpose is to introduce a mostly unique case of CAH that associated an …