Congenital lipoid adrenal hyperplasia (lipoid CAH) is the most fatal form of CAH, as it disrupts adrenal and gonadal steroidogenesis. Most cases of lipoid CAH are caused by recessive mutations in the gene encoding steroidogenic acute regulatory protein (StAR). Affected patients typically present with signs of severe adrenal failure in early infancy and 46,XY genetic males are phenotypic females...

During childhood, the main aims of the medical treatment of congenital adrenal hyperplasia (CAH) secondary to 21-hydroxylase are to prevent salt loss and virilization and to attain normal stature and normal puberty. As such, there is a narrow therapeutic window through which the intended results can be achieved. In adulthood, the clinical management has received little attention, but recent stu...

Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder and affects approximately 1 in 15,000 births in the United States. CAH is one of the disorders included on the Newborn Screening (NBS) Recommended Uniform Screening Panel. The commonly used immunological NBS test is associated with a high false positive rate and there is interest in developing second-tier assays to increase...

A 15-yr-old male patient with congenital adrenal hyperplasia (CAH) was referred to our department with a one year history of gradual worsening of tremors. He was diagnosed with salt-wasting 21-hydroxylase deficiency CAH at 40 d old and was started on hydrocortisone, fludrocortisone and salt. He was found to have hypertension at 8 yr of age. Detailed investigations failed to detect any cause for...

Vibration-rotation and pure rotational data in the X2Σ+ ground state and electronic data from the A2Π – X2Σ+ and B2Σ+ − X2Σ+ transitions of CaH and CaD were used in the quantum-mechanical direct-potential-fit (DPF) analysis to determine an analytic potential energy function for the X2Σ+ ground state of CaH, and a radial correction function for the CaD isotopologue. The potential energy function...

This article presents the dataset regarding spectrum of mutations in 21-Hydroxylase deficient CAH patients as described in "The spectrum of CYP21A2 mutations in Congenital Adrenal Hyperplasia in an Indian cohort" (R. Khajuria, R. Walia, A. Bhansali, R. Prasad, 2017) [1]. This dataset features about the CAH patients in the cohort, their classification into subtypes and finally screening the exon...

The major hydraulic phase in all the calcium aluminate cements including ciment fondue is CA (CaAl2O4). Once hydrated, it starts to form the hexagonal crystals of CAH10 and C2AH8 that depending on the time and temperature of hydration convert to the cubic crystals of C3AH6 and AH3. The nature, sequence, ...

Congenital adrenal hyperplasia (CAH), nonclassic form (with delayed debut) is the second cause of hyperandrogenism with a prevalence of 1,4-4%. The aim of the study was to establish the frequency of main hyperandrogenic manifestation in a group of women diagnosed with non-classic form of CAH. The study was performed on 41 patients diagnosed with non-classic form of CAH through the measurement o...

Self-treatment of cancer with cesium chloride, despite proven lack of efficacy, continues to produce serious adverse effects. Among these is hypokalemia predisposing to life-threatening arrhythmia. The mechanism of cesium-associated hypokalemia (CAH) has not been described. We report urinary potassium wasting responsive to amiloride therapy in a cancer patient with CAH, and discuss possible mec...

Introduction: Congenital adrenal hyperplasia (CAH) patients especially females are at increased risk for developing obesity and resistance to insulin (IR). Rising evidence indicate that insufficient vitamin D levels associated with impaired function of β-cells islets Langerhans IR, however, this finding hasn’t been investigated in CAH. The aim was identify the status pubertal CAH, following up ...