Molecular characterization of 21-hydroxylase deficiency in 70 Italian families.

Seventy Italian families affected by 21-hydroxylase deficiency were studied in order to evaluate the distribution of mutations. The coding P450c21B gene, the highly homologous P450c21A pseudogene and the linked C4A, C4B and DRB genes, mapping within the major histocompatibility complex region, were studied by multiple restriction analysis and in vitro amplification. In the affected individuals, 21.

Testicular masses in association with adrenogenital syndrome: US findings.

Adrenogenital syndrome (AGS) is the result of inborn enzymatic defects in the synthesis of steroid hormones. The production of cortisol is deficient and that of adrenocorticotropic hormone is increased. Sometimes male patients have clinically detectable testicular lesions, known as testicular tumors of AGS (TTAGS).

Pediatric emergency laboratory.

The laboratory contribution in the care of a seriously ill child is essential to plan and organize the therapy after the first-step emergency care and to know the aethiology of the illness. The most acute syndromes in pediatric emergency care are: coma, convulsions, dehydration, metabolic disequilibrium, hypovolemic or anaphylactic shock, serious infectious diseases and chemical or drug poisoning. The laboratory tests which have to be available within few minutes are blood cell count, hemogasanalysis, sodium, potassium and calcium, glucose.

Hormonal and psychologic assessment in LLA patients after bone marrow transplant.

Four adolescent males were submitted to hormonal and psychological evaluation 3-8 years after bone marrow transplant. All presented testicular failure, two were submitted to orchiectomy. Androgen replacement therapy was begun at 13 yr 7 mo-17 yr.

[A rapid response laboratory in a pediatric clinic].

Laboratory studies are an essential aspect in the management of children with grave diseases, helping to plan the therapeutic measures and to identify the disease. The most acute syndromes in pediatric emergency care are: coma, convulsions, dehydration, metabolic disequilibrium, hypovolemic or anaphylactic shock, a grave infection, chemical or drug poisoning. The laboratory tests that should be available within few minutes are blood cell count, blood and gas analysis, sodium, potassium, calcium, glucose measurements.

[Growth and puberal development in males with adreno-genital syndrome].

Growth patterns of eleven male subjects affected by congenital adrenal hyperplasia (CAH) due to 21 hydroxylase deficiency were studied and correlation with treatment was evaluated. All patients had completed their growth and were divided into two groups according to the age of diagnosis; group A: treated before 6 months of age (5 patients), group B: treated after 3 years of age (6 patients). Besides the pattern of growth, mean parental age, genetic target, onset and completion of puberty were considered.

[Male hypogonadism in children and adolescents: diagnostic assessment and therapy indications].

Testicular hormones, produced by hypothalamic-pituitary-gonadal axis activation, induce male development during embryogenesis and sexual maturation at puberty. As a consequence, any lesion at different levels of the axis is responsible for different clinical alterations, depending on the phase of life in which it develops, from early gestation to adult life. The evaluation of a hypogonadic male is complex and often diagnostic procedures only discriminate the level of damage but not the cause.

[Use of echocardiography for diagnosing anomalies of sex differentiation].

Real-time ultrasonography of pelvic organs is a useful tool in diagnosing disorders in sexual development. US has proved to be rapid, accurate, non invasive method to visualize normal and pathologic pelvic structures and its role in intersex disorders lies in the capacity of demonstrate the anatomy of the genital and urinary tracts. The sonographic finding of feminine internal genitalia and bilateral enlargement of the adrenal glands in a newborn is suggestive for congenital adrenal hyperplasia (CAH) and allows to prevent the symptoms of a salt-losing syndrome.

Electron microscopy for measurement of glomerular basement membrane width in children with benign familial hematuria.

Glomerular basement membrane (GBM) width was measured in 13 children with benign familial hematuria (BFH) and in 13 controls (6 children and 7 adults), using a standardized procedure and examining 3 glomeruli in each case. GBM widths were evaluated by comparing arithmetic means and considering the frequency of segments with a thickness less than 150 and 200 nm. With the former method, only 6 children with BFH fell below the normal values, while with the latter, 9 out of 13 were below the normal range.

Evaluation of glomerular and nonglomerular hematuria by phase-contrast microscopy.

Glomerular and nonglomerular origins of hematuria may be identified by assessment of the shape and size of the excreted red blood cells. We examined 380 urine specimens from 179 children with hematuria (greater than or equal to 3500 RBC/minute) with phase-contrast microscopy. In 106 cases, the cause was known; the results agreed with the clinical, histologic, and laboratory diagnosis in 63 of 65 subjects (97%) with glomerulopathies and in 39 of 41 (95%) with nonglomerular hematuria.