Molecular analysis of androgen resistance syndromes in Egyptian patients.

Androgen resistance syndromes [i.e. 5 alpha-reductase deficiency (5 alpha RD) and androgen receptor (AR) defects] are frequently reported among Egyptian intersex patients. This study examined AR and 5 alpha-reductase 2 (5 alpha R2) gene mutations among a sample of such cases as a first step towards instituting a screening program. Five families with a typical hormonal profile of 5 alpha RD were screened for major deletions of exons 3-5 of the 5 alpha R2 gene, using polymerase chain reaction (PCR) and electrophoresis. Thereafter, screening for point mutations was carried out by single strand conformational polymorphism (SSCP) analysis, followed by nucleotide sequencing. Seven patients with androgen insensitivity syndrome (AIS) were subjected to molecular analysis of AR exons B-H by a similar protocol, except for the use of denaturing gradient gel electrophoresis (DGGE) for screening point mutations. No major deletions were found in either gene. One family had abnormal electrophoretic mobility on SSCP of exon 5 of the 5 alpha R2 gene, resulting from a point mutation (C to T substitution) at codon 246. Another family, showing retarded mobility on DGGE, had a point mutation (G to A substitution) at codon 889 of the AR gene. In conclusion, the study revealed two mutations previously reported in other geographically distinct populations, inferring the possibility of mutational hot spots in the genes.

Serum gastrin in chronic renal failure: morphological and physiological correlations.

Elevated serum gastrin (SG) has been reported in chronic renal failure (CRF). We studied SG levels in relation to various humoral and gastroduodenal histopathologic findings in 20 controls, 12 uremics under conservative therapy (CT), 27 patients on regular dialysis (RDT) and 8 transplanted patients (Tx). SG and parathyroid hormone (PTH) levels were estimated by radioimmunoassay (RIA), in addition serum BUN, creatinine, Ca++PO4---and alkaline phosphatase (predialysis in RDT) were determined. 20 patients (12 on CT and 8 on RDT) underwent pentagastrin (PG) stimulation test and upper gastrointestinal endoscopy with biopsy of gastric and duodenal mucosa. The mucosal samples were stained for mucopolysaccharides (MPS), nucleic acid (NA) and alkaline phosphatase (AP), and divided into intense, normal or faint staining. Mean SG was 688.71 pg/ml (CT cases), 636.2 pg/ml (RDT cases) and 280.6 pg/ml (Tx cases), all values being significantly higher than controls (118.46 pg/ml). SG level had a linear correlation with serum creatinine in CT patients and predialysis creatinine in RDT patients, but not with other parameters studied (BUN, Ca++,PTH,PO4---AP). The incidence of gastroduodenal erosions (40%) had a significant negative correlation with SG. They were more frequent with normal MPS stain (p = 0.01) and NA staining (p less than 0.001) than faint staining of gastric mucosa biopsy. The acid response to PG stimulation was inversely correlated with SG. We believe that elevated SG is compensatory to a decreased response of the gastroduodenal mucosa to PG. Mere retention of SG does not explain its elevation as its correlation with serum creatinine existed not only in patients on CT, but also in RDT patients.(ABSTRACT TRUNCATED AT 250 WORDS)

Endocrine profiles in pediatric andrology. III. Human chorionic gonadotropin stimulation test in cryptorchid boys.

Serum testosterone (T) concentration and urinary 17-ketosteroid (17-KS) excretion were measured under basal conditions and after stimulation with human chorionic gonadotropin (hCG) in 36 prepubertal males (10 normal children and 26 cryptorchid patients). As a function of hCG stimulation, the increase in serum T level was evident in both groups, although the magnitude of the rise was higher in the control group than in cryptorchid boys. No significant differences in serum T or urinary 17-KS were observed between patients with unilateral and bilateral undescended testis, either before or after hCG stimulation. In spite of the wide individual variations in testicular response in all subjects, the test is valuable in assessing Leydig-cell function and in prognosis for virilization at puberty.

A study of the absorptive function of the small intestine in childhood malignant lymphomas.

A study of the absorptive function of the small intestine in chidlhood malignant lymphomas was carried out at the Cancer Institute of Cairo University. The study comprised twenty-five children, with stage III or IV lymphoma. A complete lymphoma work-up was performed for each patient, comprising clinical, pathological, haematological, biochemical and roentgenological assessments. Evaluation of small intestinal function was done by means of mucosal biopsy, small bowel motor meal, xylose excretion test, and estimation of faecal fat excretion. These tests revealed evidence of malabsorption in 69% of the patients. The study provides a better understanding of childhood malignant lymphomas in Egypt, and shows that malabsorption may be more common in the disease than has been previously suspected.