Moderate congenital adrenal hyperplasia in two girls diagnosed by newborn screening.

Introduction: Congenital adrenal hyperplasia (CAH) before the introducing a newborn screening was initially diagnosed based on clinical symptoms or positive family history and thereafter confirmed hormonal profiles.

Patients' Report: We present two female newborns with atypical screening results born shortly after the introduction of neonatal screening for congenital adrenal hyperplasia in the Wielkopolska region. Female patients 1 and 2 were both born at term and discharged from neonatal departments without any suspicion of disease.

Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency - the next disease included in the neonatal screening program in Poland.

Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders characterized by impaired cortisol synthesis. The most common form of CAH is caused by mutations in CYP21A, the gene encoding the adrenal steroid 21-hydroxylase enzyme. Deficiency of the enzyme leads to life-threatening adrenocortical insufficiency, which is not demonstrable during the first days of life.

Cognitive and social function in girls with congenital adrenal hyperplasia -- influence of prenatally administered dexamethasone.

Objectives: To assess the cognitive, social, and emotional function in girls prenatally treated with dexamethasone (Dex) due to congenital adrenal hyperplasia (CAH), compared to CAH female patients not treated prenatally.

Patients And Methods: 33 girls from CAH families were studied: 17 girls treated prenatally with Dex (9 CAH-affected and 8 non-CAH-affected) and 16 CAH-affected females prenatally untre-ated. Standardized tests to assess cognitive function, tests of memory and learning process, and the Child Behavior Checklist (CBCL) were used.

Oral mucosa in children with Prader-Willi syndrome.

Unlabelled: Prader-Willi syndrome is a genetic disorder. Abnormal saliva secretion, emotional and behaviour problems, may affect the health status of the oral mucousa.

Objectives: To assess the impact of self-destructive behaviour and abnormal saliva secretion on the oral mucosa in children with Prader-Willi syndrome (PWS).

Congenital adrenal hyperplasia due to 21-hydroxylase deficiency - management in adults.

Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency is one of the most common autosomal recessive hereditary diseases. The impairment of cortisol synthesis leads to excessive stimulation of the adrenal glands by adrenocorticotropic hormone (ACTH), adrenal hyperplasia, and excessive androgen synthesis. The syndrome is characterised by a considerable correlation between the genotype and the phenotype with the type of CYP21A2 gene mutation affecting the severity of 21-hydroxylase deficiency.

[Congenital adrenal hyperplasia due to 21-hydroxylase deficiency--management in adults].

Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency is one of the most common autosomal recessive hereditary diseases. The impairment of cortisol synthesis leads to excessive stimulation of the adrenal glands by adrenocorticotropic hormone (ACTH), adrenal hyperplasia, and excessive androgen synthesis. The syndrome is characterised by a considerable correlation between the genotype and the phenotype with the type of CYP21A2 gene mutation affecting the severity of 21-hydroxylase deficiency.

Efficacy and safety of a new ready-to-use recombinant human growth hormone solution.

We report 24-month interim results of two multicenter phase III studies in previously untreated children with growth failure secondary to GH deficiency (GHD) that were paramount to the development of a new recombinant human GH (rh- GH, somatropin), approved as the first 'biosimilar' in Europe. Study 1 consisted of 3 parts performed in 89 children. The objective was to compare efficacy and safety of the lyophilized formulation of the new somatropin [Somatropin Powder (Sandoz)] with a licensed reference rhGH preparation and the liquid formulation of the new somatropin [Somatropin Solution (Sandoz)] and to assess long-term efficacy and safety of this ready-to-use Somatropin Solution.

[Normalisation of contralateral adrenal function after long-term mitotane therapy in a girl after surgical treatment of adrenocortical carcinoma].

The main method of treatment of adrenocortical tumours is surgery. The efficacy of the mitotane therapy is still controversial with many serious side effects of the therapy. Moreover, patients receiving mitotane should be carefully monitored for adrenal insufficiency and usually require long-term hormone replacement therapy.

[Estimation of the correlation of insulin resistance and selected adipocytokines in children with simple obesity--preliminary study].

Background: Insulin resistance--a key element of the metabolic syndrome--is observed in children with simple obesity. Adipose tissue is producing bioactive substances called adipocytokines. Some of them may play a role in the development of insulin resistance.

[Anti-Müllerian hormone (AMH) measurements in the assessment of testicular function in prepubertal boys and in sexual differentiation disorders].

Unlabelled: In males AMH is produced by the testes from fetal life to puberty. The main role of AMH in the male fetus is to cause Müllerian duct regression, in prepubertal boys AMH is involved in testicular development and function. THE AIM OF THIS STUDY was to assess the use of a sensitive assay kit of AMH measurements in the diagnosis and management of children with abnormal sexual differentiation and cryptorchidism.

The influence of prenatal dexamethasone treatment on urinary excretion of adrenocortical steroids in newborns.

Unlabelled: Congenital adrenal hyperplasia due to 21-hydroxylase deficiency suspected in 14 newborns (5 F, 9 M), was treated prenatally with dexamethasone from weeks 7-9 of gestation. The 24 h urinary excretion of selected adrenocortical steroids derived from fetal and definitive adrenal zones was evaluated in these newborns at the age of 3 9 days. Among 11 babies born healthy, in one of six treated until confirmation of male karyotype in gestational weeks 12-17 and in four of five treated until delivery, suppression of fetal adrenal zone steroids was observed, accompanied additionally in three by a diminished excretion of tetrahydrocortisone.

Molecular genetic diagnosis of von Hippel-Lindau disease in familial phaeochromocytoma.

Inherited predisposition to phaeochromocytoma is seen in multiple endocrine neoplasia type 2 syndromes, von Hippel-Lindau (VHL) disease, and neuro-fibromatosis type 1. In addition familial phaeochromocytoma alone has been reported. To investigate the genetic basis for familial phaeochromocytoma alone, we screened three affected kindreds for mutations in the RET proto-oncogene and the VHL tumour suppressor gene.

Heterogeneity of urinary steroid profiles in children with adrenocortical tumors.

The excretory patterns of urinary steroids determined by capillary gas chromatography in 11 children (aged 0.8-16.5 years) with adrenocortical tumors were established.

Neurological and adrenal dysfunction in the adrenal insufficiency/alacrima/achalasia (3A) syndrome.

Review of 20 patients with glucocorticoid deficiency (three cases also with salt loss) associated with absent tear secretion (19 cases) and achalasia of the cardia (15 cases) revealed neurological abnormalities in 17 including hyper-reflexia, muscle weakness, dysarthria, and ataxia together with impaired intelligence and abnormal autonomic function, particularly postural hypotension. These findings indicate that significant neurological problems are common in this multisystem disorder.

Prenatal brain development: effect of maternal growth hormone administration. Study in albino rats.

Growth hormone (GH) was administered to pregnant rats maintained on a standard diet, and fetal brain growth and placenta weight were examined. The results show that maternal GH administration resulted in an increase of placental weight and fetal brain cell number. A significant positive correlations of placental weight with elevated brain weight of fetus suggests that the maternal growth hormone treatment might influence fetal brain development and it may be mediated by the placenta.