An adrenal cortical tissue tumor developed in a patient with poorly controlled salt-losing congenital adrenal hyperplasia. A 16-year-old girl became progressively virilized from 13 to 16 years of age. Base line serum progesterone, 17-hydroxyprogesterone, and testosterone levels were high and there was a diurnal pattern of the hormones. Initially elevated urinary 17-ketosteroid and serum steroid...

BACKGROUND Congenital lipoid adrenal hyperplasia presents with adrenal insufficiency and sex reversal in 46XY genetic males. CASE CHARACTERISTICS Two patients (46 XY karyotype), one having ambiguous genitalia and other having female external genitalia, presented with adrenal crisis at 6 months and 4 weeks of age, respectively. OBSERVATION Steroidogenic Acute Regulatory Protein gene sequenci...

Patients with congenital adrenal hyperplasia arising from mutations of 11beta-hydroxylase, the final enzyme in the glucocorticoid biosynthetic pathway, exhibit glucocorticoid deficiency, adrenal hyperplasia driven by unsuppressed hypothalamo-pituitary-adrenal activity, and excess mineralocorticoid activity caused by the accumulation of deoxycorticosterone. A mouse model, in which exons 3-7 of C...

We assessed the usefulness and reliability of computed tomography (CT scan) in evaluating adrenal hyperplasia in 38 patients, including 14 with Cushing's disease, 17 with idiopathic hyperaldosteronism (IHA), and 7 with the adrenogenital syndrome (AGS). Eighty-two normal subjects were also examined. We analyzed the shape of the adrenal gland and quantitated its thickness, width and length. Visua...

OBJECTIVES To describe the presence of prostatic tissue in 46,XX patients with the classical form of congenital adrenal hyperplasia (CAH); to evaluate the sensitivity and specificity of prostatic specific antigen (PSA) measured in congenital adrenal hyperplasia patients with regard to the detection of prostatic tissue in pelvic MRI. METHODS We studied 52 children and adolescents, 32 with the ...

Total height, sitting height, and subischial leg length were measured in 27 patients (19 girls and eight boys aged 4.3-21.1 years) with congenital adrenal hyperplasia to determine the influence of chronic hyperandrogenaemia on body proportions. Proportions were normal in 24 patients with classical congenital adrenal hyperplasia who had received steroid treatment since birth, but one of three pa...

This article describes congenital adrenal hyperplasia presenting as an adrenal mass with increased 18F-FDG positron emission tomography uptake.

Alternative Names Adrenal Hyperplasia III 21-@Hydroxylase Deficiency CYP21 Deficiency Congenital Adrenal Hyperplasia 1 CAH1 Cytochrome P450, Subfamily XXIA, Polypeptide 2 CYP21A2 Cytochrome P450, Subfamily XXI CYP21 Steroid Cytochrome P450 21-Hydroxylase P450c21 21-@Hydroxylase B, Included CYP21B CA21H Cytochrome P450, Subfamily XXIA, Polypeptide 1 Pseudogene CYP21A1P CYP21P CYP21A Hyperandroge...

Congenital adrenal hyperplasia refers to a spectrum of autosomal recessive inherited disorders of steroidogenesis most commonly identified on newborn screenings. We describe a young woman who presented with abdominal pain and on subsequent imaging was found to have features of congenital adrenal hyperplasia. Imaging findings, treatment, and potential complications are discussed.

Congenital adrenal hyperplasia associated with deficiency of steroid 21-hydroxylase is the most common inborn error in adrenal function and the most common cause of adrenal insufficiency in the pediatric age group. As patients now survive into adulthood, adult health-care providers must also be familiar with this condition. Over the past several years, F1000 has published numerous commentaries ...