Nonclassic 21-hydroxylase deficiency in Croatia.

This is the first report of nonclassic congenital adrenal hyperplasia due to 21-hydroxylase (21-OH) deficiency in Croatia in which the patients have been evaluated clinically, hormonally, and by molecular genetic analysis. Genetic analysis was performed on 18 Croatian patients with nonclassic CAH due to 21-OH deficiency using allele-specific PCR. ACTH stimulation testing and HLA typing were used to evaluate patients hormonally.

[X-linked adrenoleukodystrophy--case reports of 4 patients in a family].

A result of a thorough clinical and laboratory study of 27 family members from three generations showed three patients with adrenoleukodystrophy (ALD), one with adrenomyeloneuropathy (AMN) and five females heterozygous for ALD, three of which were psychiatric patients. Four males died at younger age under mysterious circumstances and it is certain that three of them had dark pigment. Based on this information, and on their position in the family tree, it can be presumed that all of them, or three at least, had ALD or AMN.

Choanal stenosis, hypothelia, deafness, recurrent dacryocystitis, neck fistulas, short stature, and microcephaly: report of a case.

We report on a 11-year-old girl with bilateral choanal stenosis, hypothelia, hearing loss, recurrent dacryocystitis, neck fistulas, short stature, and microcephaly. Only three individuals with choanal atresia from a consanguineous family have been reported. One of the patients also had hypoplastic nipples, hypotonia, and delay in speech development.