Eight years evaluation of children with ambiguous genitalia attending the endocrinology clinic of Alexandria university children's hospital: a retrospective study

Ambiguous genitalia is a real problem in Egypt representing 5.5% of total number of endocrine patients in our study. There is a wide variation of the age at presentation. More than one third of our patients presented with adrenal crisis which is the most serious complication of ambiguous genitalia. Management of cases of DSD requires an experienced multidisciplinary team that is usually found in tertiary centers. Gender assignment in cases of DSD is a difficult challenge. Lack of some laboratory investigations or their higher cost as well as unavailability of some genetic analysis in developing countries are important causes of delayed diagnosis in these cases. The aim of the work was to review the clinical characteristics of children with ambiguous genitalia who attended the endocrinology clinic of Alexandria University Children's Hospital between 2002-2009 to categorize them depending on their clinical, laboratory and radiological findings and to study the response to therapy. All the records of children with ambiguous genitalia who attended the endocrinology clinic in Alexandria University Children's Hospital in the period from 2002 to 2009 were reviewed to obtain data from files regarding history, clinical examination, genital examination and grading, laboratory investigations, karyotyping, radiological findings, laparoscopic findings, final diagnosis, management plan, and gender assignment. This study included 77 children with ambiguous genitalia: Clinically, the sex of presentation was 49 females [63.6%], 21 male patients [27.3%], and 7 cases presented with undetermined sex [9.1%] while according to DSD classification, our patients were classified into 46 XX DSD [79.2%],46 XY DSD [19.5%], and Ovotesticular DSD [only one case]. The age of presentation ranged from 0.23-120 months with a mean of 11.07 +/- 20.03 months. Consanguinity among patient's parents was observed in 36.4%. 39% of our patients presented with adrenal crisis, and 5.2% were associated with other congenital anomalies. 3.8% had pubic hair at presentation and only one case had hypertension. In cases of 46 XXDSD, salt-losing type of congenital adrenal hyperplasia [21-Hydroxylase deficiency] was the commonest type representing 78.7%. In cases of 46 XYDSD, the most frequent diagnosis was androgen insensitivity syndrome that was present in 53.3%. Regarding to gender assignment, 48 cases were reared as females [62.3%] and ten cases were reared as males [13%], the same as their initial sex assignment by their families. 14 cases [18.2%] changed their gender from males to females and five cases [6.5%] had changed from female to male. From our study, we concluded that ambiguous genitalia is a real problem in our country representing 5.5% of total number of endocrine patients in our study. Management of cases of DSD requires an experienced multidisciplinary team that is usually found in tertiary centers. Gender assignment in cases of DSD is a difficult challenge. Lack of some laboratory investigations or their higher cost as well as unavailability of some genetic analysis in developing countries may delay and affects the final diagnosis of some cases of ambiguous genitalia

Study of Serum Calcium, Parathyroid Hormone and Calcidiol in Child hood Nephrotic Syndrome

The aim of the present work was to study serum calcium, parathyroid hormone [PTH] and Calcidiol [25- hydroxyl vitamin D] in children with the first attack of nephrotic syndrome [NS]. The study was conducted on ten patients with minimal change NS [MCNS] [group I] and ten patients with non-MCNS [group II]. They were I1 males and 9 females, their age ranged from 2 to 11 years. Minimal change NS was diagnosed according to the criteria of the International Study of Kidney Diseases in Children [ISKDC]. Ten healthy children of matching age and sex served as a control group. Patients who received medications known to affect calcium and vitamin D metabolism were excluded. All patients had adequate sun exposure and normal diet except for salt restriction. All patients were studied during the active stage of their initial attack. They had nephrotic range proteinuria, hypoalbuminemia, hypercholesterolemia, normal renal function and were not bed ridden. Total serum calcium [Ca], ionized Ca, phosphorus, alkaline phosphatase [ALP], PTH and Calcidiol were measured in cases and controls. The investigations were repeated in-group I after remission. Urinary Ca and phosphorus output were measured in nephrotic children. None of the patients had tetany or other hypocalcemia manifestations. Mean values of total serum Ca and 25[OH] D were significantly lower in both nephrotic groups compared to the control group [P0.000]. The mean values of serum ionized Ca, phosphorus, ALP, PTH, urea and creatinine did not show any statistically significant difference between the studied groups. Total serum Ca after remission was not significantly different from the control group. Serum ionized Ca, phosphorus, and ALP did not show any statistically significant difference between the active stage, remission or control group. PTH was significantly higher during active stage than in remission [P0.004]. The mean value of 25[OH] D increased offer remission [P=0.001], but its level was still significantly lower than the control group [P0.000]. Hypocalcaemia [> 2 mg/kg/day] was evident in the MCNS group. Urinary phosphorus output was normal in both nephrotic groups

Conclusion: this study showed a subclinical compensatory hyperparathyroidism during protein uric phase of initial attacks of NS evidenced by normal serum ionized calcium, low 25 [OH] D and relative increase of PTH. There was no true hypocalcemia in studied cases; total serum calcium being partly albumin-bound was reduced due to associated hypoalbuminemia. Thus, the routine use of vitamin D and calcium supplementation during the initial attacks of NS are not recommended

Atrial natriuretic peptide in bronchial asthma in children

The hormone atrial natriuretic peptide [ANP] causes bronchodilation and partially protects against direct and indirect bronchial challenges in patients with asthma. The present study was carried out to determine the role of ANP in bronchial asthma in children. Twenty asthmatic children with age ranged from 1.5 to 11 years old were subjected to clinical laboratory and radiological studies. Plasma ANP has been measured for the asthmatic group during acute severe asthma and at least 4 weeks later while clinically stable as well as for a control group who included 15 clinically free children with appropriate age and sex the mean plasma value of ANP during acute severe asthma [9.25 [2.95 pg/ml] was significantly higher [P<0.001] than the corresponding values of clinically stable asthmatic children [6.13 +/- 2.72 pg/ml] and the control group [1.45 +/- 1.12pg/ml] also the difference between the mean plasma ANP values of clinically stable asthmatic children and the control group was statistically highly significant [p<0.001] we concluded that ANP could be considered one of the mediators of asthma modulation that increased in asthmatic children to protect against bronchoconstriction

Atrial natriuretic peptide in bronchial asthma in children

The hormone atrial natriuretic peptide [ANP] causes bronchodilatation and partially protects against direct and indirect bronchial challenges in patients with asthma. The present study was carried out to determine the role of ANP in bronchial asthma in children. Twenty asthmatic children with age ranged from 1.5 to 11 years old were subjected to clinical, laboratory and radiological studies. Plasma ANP has been measured for the asthmatic group during acute sever asthma and at least 4 weeks later while clinically stable, as well as, for a control group who included 15 clinically free children with appropriate age and sex. The mean plasma value of ANP during acute sever asthma [9.25 +/- 2.95 pg/me was significantly higher [P<0.001] than the corresponding values of clinically stable asthmatic children [6.13 +/- 2.72 pg/ml] and the-control group [1.45 +/- 1.12 pg/ml]. Also, the difference between the mean plasma ANP values of clinically stable asthmatic children and the control group was statistically highly significant [P<0.001]. We concluded that ANP could be considered one of the mediators of asthma modulation that increased in asthmatic children to protect against bronchocontriction

Study of intercellular adhesion molecule-I in patients with liver cirrhosis and chronic hepatitis: association with disease severity and activity

This study was carried out in Benha University hospital on 20 patients with liver cirrhosis [Group I], 25 patients with chronic hepatitis [Group II] and 20 healthy controls. Thorough history and clinical examination was done to all subjects. Abdominal ultrasonography and the following laboratory investigations were performed to every subject: AST, ALT, serum albumin, serum bilirubin, Prothrombin time [PT], HCV Ab, HBs Ag, HBc Ab [IgG]. HBe Ab and serum level of intercellular adhesion molecule- 1 "sICAM- 1". Liver biopsy was done to patients only. Assessment of disease severity was judged by Child-Pugh classification. Assessment of disease activity was done by histopathological staging and by ALT and AST levels. Our work showed that serum level of sICAM- 1 was significantly high in both patient groups compared to controls, and this elevation was attributed to both increased hepatic production and defective hepatic clearance. The serum level of sICAM-1 correlated significantly with both disease severity and activity. Our study showed that serum level of sICAM-1 can be used as a screening non-invasive test with high specificity [100%] and sensitivity [94.6%] to detect patients with chronic liver diseases. On the other hand we failed to find a significant difference in the serum level of sICAM-1 between the two patient groups. Therefore, serum level of sICAM-1 has a poor diagnostic value with low specificity [78.6%] and sensitivity [43.5%] to differentiate patients with chronic hepatitis from patients with cirrhosis