Review of Turkish patients with growth hormone insensitivity (Laron type).

Clinical spectrum and endocrine details of thirteen Turkish children (age 0.3-14.2 years; eight females and five males; ten prepubertal, three pubertal) with growth hormone insensitivity are presented. All patients display phenotypical features of severe growth hormone deficiency. The diagnosis based on height standard deviation score (SDS), basal growth hormone (GH), basal insulin-like growth factor I (IGF-I, IGF-I response in an IGF generation test and growth hormone binding protein (GHBP) measurements. The median height SDS was -7.4 (range -3.2 to -10), weight for height index was 100 (range 81-152) and bone age/height age ratio was 2 (range 1.6-3.3). Endocrine investigations showed a median basal GH concentration of 61.4 mU/l (range 23.5-120 mU/l). Basal IGF-I level was below 10 ng/ml in all patients except one. None of the patients showed a significant IGF-I response to injections of GH (0.1 U/kg body weight for 4 days). The median IGFBP-3 level was 0.23 mg/l (range 0.1-0.56 mg/l). The GHBP level was undetectable in all of 10 patients. The high number of patients in our center may be due to the high rate of consanguinity among the Turkish population and the referral facility of our center in the area. These patients may benefit from the new therapy with recombinant human IGF-I.

Conn syndrome in a child, caused by adrenal adenoma.

Hyperaldosteronism owing to aldosterone-producing adenoma (Conn syndrome) is a rare but potentially curable form of pediatric hypertension. The authors report on a 5-year-old girl who had symptoms of polyuria, polydipsia, and fatigue, and for whom the diagnosis of hyperaldosteronemia was suggested by a low serum potassium level and persistent hypertension. The diagnosis was confirmed by increased levels of plasma aldosterone and decreased levels of plasma renin. The tumor was localized with ultrasonography and computed tomography, which showed a 2-cm mass in the left adrenal gland. The left adrenal gland was excised, and pathological assessment showed an adenoma. Only 14 other pediatric cases (< 16 years of age) have been reported in the English-language literature.

Coexistence of inverted Y, chromosome 15p+ and abnormal phenotype.

In this study, we report conventional and molecular cytogenetic studies in a patient with multiple anomalies who is a carrier of a pericentric inversion on chromosome Y and a chromosome 15p+. His parents were phenotypically normal. The father is a carrier of a pericentric inversion of chromosome Y, and the mother carries a large chromosome 15p+ variant. The inverted Y chromosome was demonstrated by GTG- and CBG-banding, and DAPI-staining. The presence of extra chromosomal material on the chromosome 15p, that was C-band and DAPI positive, was demonstrated by trypsin G-banding. This suggests that the extra chromosomal material contained repetitive DNA sequences. NOR-staining indicated the presence a nuclear organizer region at the junction of the chromosome 15p+ material. Fluorescence in situ hybridization (FISH), with chromosome X and Y painting probes, alpha- and classic-satellite probes specific for chromosome Y, alpha- and beta-satellite III probes for chromosome 15 were used to elucidate the nature of both the inverted Y chromosome and chromosome 15p+. The result with chromosome X and Y painting probes, alpha-satellite, classic-satellite, and DYS59 probes specific for chromosome Y revealed the rearrangement of the Y chromosome was an inv(Y)(p11.2q11.22 or q11.23). FISH with alpha-satellite and beta-satellite III probes for chromosome 15 demonstrated that the extra chromosomal material on the chromosome 15 probably represents beta-satellite III sequences. The possible roles of the simultaneous occurrence of an inverted Y and the amplified DNA sequence on chromosome 15p in the abnormal phenotype of the proband are discussed.

Effect of recombinant human erythropoietin (r-HuEPO) therapy on plasma FT3, FT4, TSH, FSH, LH, free testosterone and prolactin levels in hemodialysis patients.

The aim of this study was to evaluate the effect of r-HuEPO treatment on free triiodothyronine (FT3), free thyroxine (FT4), thyroid stimulating hormone (TSH), follicle-stimulating hormone (FSH), luteinizing hormone (LH), free testosterone and prolactin levels in uremic hemodialysis patients. Twenty-four uremic hemodialysis patients were given r-HuEPO with a dose 60 U/kg as intravenous bolus injection at the end of each dialysis session. Once the hematocrit value of the patient had reached a range of 30-35%, the dose was adjusted so as to keep the hematocrit levels constant. Twenty uremic dialysis patients were taken as control group. The above-mentioned hormone levels of patients and control group were determined before and 4 months after r-HuEPO treatment. After the treatment, serum prolactin levels significantly decreased in both sexes (36.8 +/- 7.8 vs 22.9 +/- 6.3 ng/ml and 78.3 +/- 13.3 vs 37.4 +/- 10.4 ng/ml male and female, respectively). FT3 and FT4 significantly increased (1.17 vs 1.67 pg/ml, p < 0.05, and 0.64 vs 0.084 ng/dl, p < 0.05, respectively). TSH levels increased but those changes were not significant. There was no change in the level of any hormone in the control group. Also, the sexual functions of eight male patients treated with r-HuEPO improved and menstruation started again in four female patients. We concluded that r-HuEPO treatment especially decreases prolactin level in uremic hemodialysis patients. It is conceivable that correction of elevated prolactin levels could improve sexual disorders in these patients.

Effect of vitamin E therapy on sexual functions of uremic patients in hemodialysis.

Twenty-four uremic patients on hemodialysis who had never been treated with vitamin E or related drugs and 12 control patients with normal renal function were studied. Hemodialysis patients were randomly divided into two groups; 12 were treated with oral vitamin E (300 mg/day) for eight weeks and 12 uremic patients and 12 controls were given placebo. Serum vitamin E, prolactin, FSH, LH, and free testosterone levels were measured in all patients before and after treatment. After the vitamin E treatment serum prolactin levels were significantly decreased (50.8 vs 15.4 ng/ml, p < 0.01). Vitamin E levels were significantly increased (1.11 vs 1.22 mg/dl, p < 0.05). Serum FSH, LH and free testosterone were not affected. In the other two groups there were no significant changes. These results show that vitamin E treatment lowers prolactin levels in uremic hemodialysis patients. This might be due to inhibition of central prolactin secretion. Vitamin E inhibits pituitary gland hypertrophy in vitamin E-deficient rats.

Different clinical features of amitraz poisoning in children.

OBJECTIVE: To evaluate clinical experience of amitraz poisoning in children. METHODS: In this study, the clinical and laboratory features of amitraz poisoning in 14 children are presented and compared with previous studies. RESULTS: This study revealed that clinical manifestations of poisoning by oral and dermal routes appeared within 30-150 min, and that central nervous system (CNS) depression, which is the most important sign, improved within 6-24 hours and other signs within 24-72 hours. Unlike the findings in other studies, three severe cases in our study had reversible mydriasis and one of them required resuscitation because of cardiopulmonary arrest occurring as a result of serious respiratory depression. In addition, hepatic function test levels had increased in these three cases, and aspiration pneumonitis existed because of emesis in two of them. CONCLUSION: There is little information in the literature about dermal poisoning. The signs and symptoms of dermal poisoning were relatively mild compared with oral poisoning, and there were no topical signs. The classical signs of alpha2-adrenergic stimulation such as marked sinusal bradycardia and mydriasis as reported in many poisoning cases of animals have not been reported before our three severe cases among children.

Gangrene after penicillin injection (a case report).

A patient with right lower limb gangrene that developed after penicillin injection is presented. Accidental intraarterial administration of penicillin may cause gangrene necessitating amputation. To avoid this severe complication, every intramuscular injection should be given with meticulous attention to proper technique, with adequate restraint of the patient, and with full knowledge of local anatomy and potential complications.

Prophylactic efficiency of 3-weekly benzathine penicillin G in rheumatic fever.

Benzathine penicillin G (BPG) is effective for secondary prophylaxis of rheumatic fever (RF). However, interval between injections a remains a controversial matter. In a study population of 74 patients, following the initial diagnosis of RF, 3-weekly BPG (1.2 million units) regimen was started. During the first three-week period, serum penicillin concentrations were examined on the 7th, 14th and 21st days and throat culture done for group-A b hemolytic streptococcal (GABHS) infection. Ten patients (13.5%) at 21st day of injection had low serum penicillin concentration after the first BPG. GABHS was isolated in 5 patients during this period. Although two of these 5 patients had symptoms of respiratory tract infection, according to laboratory data, the other three were accepted as carriers. All 74 patients were then followed-up for rheumatic recurrence (RR) during long-term period (6 to 60 months, mean 25 +/- 5 months). There was no RR among regular (missing no more than one injection a year) group. We concluded that 3-weekly BPG regimen was satisfactory for secondary prophylaxis in RF, even though serum penicillin level was inadequate during the third week in some of the patients.

Serum cardiac troponin-I in active rheumatic carditis.

OBJECTIVE: The study was performed to investigate the level of serum cardiac troponin I (cTnI), a specific marker for myocardial cell damage, in the acute rheumatic carditis (RC). METHODS: Twenty seven consecutive patients with acute RC and 23 healthy children were enrolled. RESULT: cTnI level in both groups showed no statistical difference (p > 0.05). CONCLUSION: Serum cTnI level did not gain clinical use.

Acute rheumatic fever in Konya, Turkey.

BACKGROUND: Patients with acute rheumatic fever (ARF), who were admitted to Pediatric Cardiology Unit of Selçuk University Faculty of Medicine from July 1993 to 1998, were studied retrospectively to verify the clinical profile of the disease and to compare the results with those from other countries. METHODS: All patients were examined by one of the two pediatric cardiologists in our study group. Every patient had a chest X-ray, electrocardiogram and an echocardiographic investigation. Throat culture, antistreptolysin O test, C-reactive protein and sedimentation rates were investigated for each patient. RESULTS: During the study period, 274 cases with ARF were identified among patients admitted to the present institution. There were 8032 visits during the study period, giving an occurrence rate of 3.4%. Arthritis was the most common major manifestation (81.4%). It was followed by carditis (60.9%) and chorea (17.9%). Subcutaneous nodules (0.7%) and erythema marginatum (0.4%) were both seen in patients with carditis. The mitral valve was the most commonly affected valve (95.8%), followed by the aortic valve (40.1%). Two patients died and regurgitation disappeared in 21% of patients with mitral regurgitation. Fifteen patients (14%) with isolated arthritis and pure chorea had mitral regurgitation demonstrated by echocardiographic investigation but without any significant murmur. CONCLUSION: The present study indicates that ARF is still a significant problem in Konya and that recurrences can be prevented by administering a 3-week benzathine penicillin G regimen.

Effect of 1,25 (OH)2D3 treatment on glucose intolerance in uraemia.

The aim of this study was to evaluate the effect of calcitriol treatment on glucose intolerance in uraemia. Thirty one patients on haemodialysis who had never been treated with vitamin D or related drugs, and 12 healthy control subjects with normal renal functions were studied. Uraemic patients were randomly divided into two groups; 16 patients were treated with oral calcitriol (0.5 micrograms/day) for 8 weeks, and 15 uraemic patients and 12 healthy subjects were given a placebo. In all these cases, before and 8 weeks after treatment, baseline serum glucose, insulin, calcium, parathormone (PTH), and 1,25 (OH)2D3 were measured. After an oral load of 75 g glucose, blood glucose and insulin were determined at 30, 60, 90, and 120 min. The same measurements were repeated after 8 weeks. HbA1c and fructosamine were also measured at 0 and 8 weeks. Baseline serum insulin was significantly elevated after calcitriol treatment (7.81 versus 11.63 microIU/ml) there was also a significant increase in insulin following calcitriol treatment at 30, 60, 90, and 120 min. On the other hand, glycosylated haemoglobin (HbA1c) and fructosamine decreased after calcitriol treatment (HbA1c 7.09% versus 5.22% P < 0.01 and fructosamine 2.92 versus 2.50 mmol/l P < 0.01). Blood glucose significantly decreased after calcitriol treatment at 0, 30, 60, 90, and 120 min. In the other two groups there were no significant changes in any parameters. These results seem to confirm that vitamin D influences pancreatic beta (beta) cell secretion and suggest that calcitriol may improve glucose intolerance in uraemic haemodialysis patients.(ABSTRACT TRUNCATED AT 250 WORDS)

Testicular changes in newborn rats exposed to phototherapy.

In this study we investigated the long-term effects of 72-h continuous phototherapy on the reproductive system of newborn rats. The animals' weight, fertilization rates, and number of newborn and histopathological changes in the gonads in a normal group not exposed to phototherapy and in the test animals were compared. At the age of 24 weeks there were no significant differences between the two groups, apart from the histology of the testicles of the male rats who were exposed to the phototherapy. The study group showed a significantly reduced diameter of the seminiferous tubules when compared to the controls (P < 0.001). It can be postulated that phototherapy may cause histological degenerative changes in the structure of the rat's testes, even though there were no changes in fertilization rates. Further studies are necessary to reveal the effects of phototherapy on humans and to determine the effects, if any, on fertility.