Congenital adrenal hyperplasia (CAH) is a heterogeneous group of autosomal recessive disorders due to defects in steroid biosynthesis. In about 90% patients, CAH caused by pathogenetic variants CYP21A2 gene, impairing the function 21-hydroxylase (21-OH) enzyme. can present as classical form (simple virilizing or salt wasting) non-classical (NC-CAH). NC-CAH gene that result 20–70% residual activ...

The treatment of congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency is complex. In addition to disease control, important therapeutic goals are the maintenance of normal growth and the acquisition of normal reproductive function. Here, data regarding final adult height (FH) in patients with CAH will be reviewed. Additional difficulties associated with CAH, including risks of ...

Congenital adrenal hyperplasia (CAH) is a group of hereditary diseases, which are autosomal recessive. CAH occurs due to defect in one of the cortisol coding genes and often clinically presents itself with signs of androgen overproduction. In this article, we report a case of CAH and Schmid metaphyseal dysplasia. Our literature review indicated that this report is the first attempt on CYP11B1 a...

The ratio of the length of the second digit (2D) to the length of the fourth digit (4D) is greater in women than in men. Since androgens are involved in most somatic sex differences and since the sexual dimorphism in 2D:4D is stable from 2 years of age in humans, it was hypothesized that finger length pattern development might be affected by early androgen exposure. Human females with congenita...

UNLABELLED Testicular adrenal rest tumours (TARTs) are benign ACTH-dependent tumours that occur in males with congenital adrenal hyperplasia (CAH) and if left untreated can destroy testicular tissue. Corticosteroid suppressive treatment could result in the regression of these testicular tumours. We present a patient with bilateral large TARTs as a consequence of poor compliance to treatment and...

Prevalence of Congenital Adrenal Hyperplasia (CAH) is not exactly known in the Austria; a number of patients with CAH might not be diagnosed, especially males. CAH is in about 95 % of the cases due to a defect in the 21hydroxylation (‘classical CAH’). Newborn screening for CAH, based on the measurement of 17a-hydroxyprogesterone (17-OHP) was shown to be efficient for diagnosis, and is part of t...

OBJECTIVE Congenital adrenal hyperplasia (CAH) is an endocrine autosomal recessive disorder with various symptoms of diverse severity. Mild hyperandrogenemia is the most commonclinical feature in non-classic CAH patients and 95% of the cases are identified by mutations in the CYP21A2 gene. In the present study, the second most common cause for non-classic CAH (NC-CAH), 11β-hydroxylase deficienc...

Influences of prenatal androgen exposure on human sex-typical behavior have been established largely through studies of individuals with congenital adrenal hyperplasia (CAH). However, evidence that addresses the potential confounding influence of parental socialization is limited. Parental socialization and its relationship to sex-typical toy play and spatial ability were investigated in two sa...

BACKGROUND Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder associated with inborn errors of steroid metabolism. 21-hydroxylase enzyme deficiency occurs in 90 to 95% of all cases of CAH, with accumulation of 17 hydroxyprogesterone (17-OHP). Early diagnosis of CAH based on newborn screening is possible before the development of symptoms and allows proper treatment, correct...

Congenital Adrenal Hyperplasia (CAH) is an inherited condition caused by an enzyme deficiency which leads to a potentially life threatening adrenal crisis. Poor compliance and any illness, injury, or major medical procedure can be life threatening. Medical interventions, counselling and timely education are essential for these families. This study evaluated a psychosocial education program (PEP...