Congenital adrenal hyperplasia (CAH) is a genetic autosomal recessive condition most frequently as a result of a mutation in the 21-hydroxylase enzyme gene. Patients with poorly controlled CAH can manifest characteristic imaging findings as a result of adrenocorticotrophic hormone stimulation or the effects of cortisol precursor excess on various target organs. We present a spectrum of imaging ...

This is the first report of congenital adrenal hyperplasia (CAH) due to combined 17α-hydroxylase/17,20 lyase deficiency in an Omani patient who was initially treated for many years as a case of hypertension. CAH is an uncommon disorder that results from a defect in steroid hormones biosynthesis in the adrenal cortex. The clinical presentation depends on the site of enzymatic mutations and the t...

Although acute onset hypokalaemic paralysis is an uncommon cause of acute weakness, morbidity and mortality may occur due to respiratory failure and cardiac arrhythmias. Therefore it is important for a physician to have an idea regarding the underlying causes and its prompt management. To the best of our knowledge, this is the first case of congenital adrenal hyperplasia (11 beta hydroxylase de...

OBJECTIVES To present the results of feminising genitoplasty done in female patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency. DESIGN Case series. SETTING A tertiary referral centre in Hong Kong. PATIENTS Female patients with congenital adrenal hyperplasia undergoing corrective surgery for virilisation between 1993 and 2012. MAIN OUTCOME MEASURES The operativ...

Congenital adrenal insufficiency is caused by specific genetic mutations. Early suspicion and definite diagnosis are crucial because the disease can precipitate a life-threatening hypovolemic shock without prompt treatment. This study was designed to understand the clinical manifestations including growth patterns and to find the usefulness of ACTH stimulation test. Sixteen patients with confir...

The use of glucocorticoids to treat individuals with congenital adrenal hyperplasia (CAH) was first reported by both Wilkins and Bartter in 1950. Since that time, the care of these patients has improved dramatically, and through the efforts of dedicated medical researchers, it continues to improve today. With early detection by newborn screening, initiation of treatment in infants with salt-was...

Congenital adrenal hyperplasia (CAH) applies to a family of inherited disorders of steroidogenesis caused by an abnormality in one of the five enzymatic steps necessary in the conversion of cholesterol to cortisol. The enzyme defects are transmitted as an autosomal recessive trait. Patients with a "classical" form of CAH usually present during the neonatal and early infancy period with adrenal ...