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. Molecular genetic analysis revealed a variety of mutations in individuals with different clinical symptoms, including precocious pubarche, hirsutism, (dysmenorrhea, subfertility and clitoromegaly. Serum stimulated 17-hydroxyprogesterone (17-OHP) levels indicated that all patients fell within the acceptable range for nonclassic congenital adrenal hyperplasia. Clinical and genetic analysis confirmed nonclassic 21-OH deficiency in our Croatian sample of ten males and eight females. This study shows that genotype does not necessarily predict fertility status in our group of affected patients.

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. Similar clinical features were seen in two children reported by Greenberg [1987: Am J Med Genet 28:931-934] and Wilson et al. [1998: Am J Med Genet 75:220-222]. They were prenatally exposed to methimazole because of maternal Graves disease. Neck fistulas and microcephaly noted in our patient were not previously reported as features of the syndrome or in the patients prenataly exposed to methimazole. Our patient and those reported by Qazi et al. [1982: Am J Med Genet 13:413-416] most probably have a rare syndrome characterized by this distinctive combination of symptoms. Prenatal exposure to methimazole can cause a phenocopy of the syndrome, which was probably the case in the patients reported by Greenberg and Wilson et al.

[X-linked adrenoleukodystrophy--case reports of 4 patients in a family]. / X-vezana adrenoleukodistrofija--prikaz obitelji s cetiri bolesnika.

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. It is necessary to measure very long chain fatty acids level (VLCFA) in the blood of males with Addison's disease in families with ALD or AMN cases, as well as in persons showing signs of demyelinization of white substance followed by progressive neurological symptomatology of unknown cause. All the ALD and AMN patients detected up to now were diagnosed at the Department of Pediatrics, University Hospital Rebro Zagreb. It undoubtedly indicated that there are still a significant number of undetected cases among children and adults in Croatia. In view of the recently provided possibilities of VLCFA level measurements in Croatia, a larger number of detected cases can be expected. Early detection of patients and heterozygotes for ALD, as well as the prenatal diagnostics, enable the families at risk to plan their descendants. Adrenal insufficiency in these patients is very successfully cured with gluco and mineralcorticoid substitution therapy. Unfortunately, there are still no methods of stopping or curing progressive neurological disorders.