Patient-centered interdisciplinary health care for children with chronic medical disorders represents an evolution from the traditional "stop and go" treatment for acute illnesses. This model for health care delivery has been called the "medical home," a concept that was originally developed in pediatrics for the care of children with special needs. Patient and family-centered, comprehensive, i...

Congenital adrenal hyperplasia comprises a group of disorders resulting from defects in enzymes required for the synthesis of cortisol. The clinical presentation depends on the specific enzyme defect. We report a rare case of congenital adrenal hyperplasia due to 17 alpha-hydroxylase deficiency. A 26-year-old female patient referred with hypertension and hypokalemia. She also had primary amenor...

Non-classical congenital adrenal hyperplasia by 21 hydroxylase deficiency is an autosomal recessive disease whose usual presentation a late virilization. In some African countries like Morocco, there are cultural barriers to gynecological examination in girls, women consult until for sexual problem as the case of our patient who consulted clitoris hypertrophy at age 22 years and hormonal assess...

Congenital Adrenal Hyperplasia is a group of autosomal recessive disorders due to deficiencies enzymes involved in steroidogenesis. Clinical manifestations depend on the degree cortisol and aldosterone deficiency. The salt-wasting form can present as medical emergency with severe hyponatremic dehydration, hyperkalemia, polyuria hyperpigmentation. However, recent years, patients CAH presenting a...

Abstract Background Measurement of multiple steroids, 17 hydroxyprogesterone, 11 deoxycortisol, and 21 is required to discriminate between congenital adrenal hyperplasia due hydroxylase deficiency that beta deficiency. This work aims at the selection more appropriate, cost-effective method among either mass spectrometry or radioimmunoassay for quantitation previous steroids. In this study, bloo...

The ACTH test has been used to confirm the diagnosis of adrenal insufficiency and the classic and the non-classic adrenal hyperplasia due to the 3-HSD, 21 OH e 110H deficiencies. This article reviews the historical aspects of the use of ACTH in the diagnosis of hirsutism and points out its mains indications. In spite of new biological molecular advances in the diagnosis of adrenal enzymatic def...

a four day old female infant was admitted because of poor feeding, vomiting and jaundice. laboratory examination showed hyperkalemia, mild hyponatremia and renal tubular acidosis type 4. serum aldosterone and plasma renin activity were elevated but serum cortisol, 17 -hydroxyprogesterone, acth, 24 hour urinary 17- ketoste roid, pregnanetriol, renal function and sonogram were normal and hence ps...

Testicular adrenal rest tumors (TART) occur often as asymptomatic nodules in corticotropin-dependent lesions aberrant adrenal tissue in congenital adrenal hyperplasia (CAH) patients. The present manuscript is about an unusual case of a 16-year-old CAH patient due to 11β-hydroxylase deficiency. He underwent testicle biopsy because of testicle tumor suspicion and diagnosed with TART.

Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder characterized by enzyme defects in the steroidogenic pathways. Testicular adrenal rest tumors (TARTs) are may have serious consequences in patients with CAH. They probably develop from ectopic remnants of intratesticular adrenal tissue, which might be stimulated by the rise of adrenocorticotropic hormone (ACTH). Their histo...

The national neonatal screening programme in the United Arab Emirates currently includes 16 disorders: congenital hypothyroidism, sickle-cell diseases, congenital adrenal hyperplasia, biotinidase deficiency and 12 amino acid, organic acid and fatty acid disorders. This paper reports data since the programme started in January 1995 up to December 2011 on the incidence of screened disorders and t...