Congenital adrenal hyperplasia--a clinical and genetic survey. Are we detecting male salt-losers?

CONGENITAL ADRENAL HYPERPLASIA IN NORTH•EAST OF IRAN: A REVIEW OF 47 PATIENTS AND THE ROLE OF PARENTAL CONSANGUINITY IN THE OCCURRENCE OF DISEASE

In this study the clinical and epidemiological characteristics of congenital adrenal hyperplasia were evaluated prospectively in 47 patients admitted in Imam Reza Hospital in Mashhad during a 4 year period. 21-hydroxylase deficiency was present in 42 patients (89.3%), the simple virilizing form in 6 and the salt-losing form in 36 of them. 11b hydroxylase deficiency was present in 5 patient...

Salt-losers and non salt-losers in congenital adrenal hyperplasia.

Evaluation of deficiency of 21-hydroxylation in patients with congenital adrenal hyperplasia.

Congenital adrenal hyperplasia can manifest itself in a variety of clinical and biochemical abnormalities (Bongiovanni and Root, 1963). The salt-losing tendency in some of these patients can be due to the absence of specific enzymes: dehydrogenases or hydroxylases (Bongiovanni and Root, 1963; Ulick et al., 1964; Visser and Cost, 1964). In addition to the impaired production of certain steroids,...

Should we screen for congenital adrenal hyperplasia? A review of 117 cases.

A total of 117 patients with congenital adrenal hyperplasia who were under the care of paediatricians at Birmingham Children's Hospital between 1958 and 1985 were reviewed retrospectively. There were 47 boys (40%) and 70 girls (60%); 30 of the 47 boys (64%) and 38 of the girls (58% of the 66 whose salt state was known) were salt losers. In all salt losers the condition was diagnosed before the ...

Continuing need for mineralocorticoid therapy in salt-losing congenital adrenal hyperplasia.

Four patients with salt-losing congenital adrenal hyperplasia (CAH) who had stopped mineralocorticoid therapy for several years, showed raised plasma concentrations of 17OH-progesterone and plasma renin activity, despite adequate glucoticoid therapy. One patient was able to reduce urinary sodium excretion when the sodium intake was restricted. Another patient who was a salt-loser, developed sig...