CYP21A2 gene mutation in patients with congenital adrenal hyperplasia. Molecular genetics report from Saudi Arabia

The aim of this study is to determine congenital adrenal hyperplasia [CAH] with the pattern of CYP21A2 gene-mutations in Saudi children. Between January 2011 and March 2014 at King Fahad Military Complex, Dhahran, Saudi Arabia, we thoroughly examined 11 patients with CAH and 2 asymptomatic individuals with a history of affected siblings. Additionally, we sequenced the full coding regions of the CYP21A2 gene and screened the gene for deletion[s]/duplication[s] using the multiplex ligation-dependent probe amplification [MLPA] technique. Nine patients had classic CAH and presented with ambiguous genitalia and/or salt losing crisis. Two patients had the non-classic form of CAH and presented with precocious puberty. The remaining 2 subjects were asymptomatic. Screening the CYP21A2 gene, we detected p.Gln318X mutation in 4 patients, c.290 -13 C>G [IVS2-13C>G] in another 4, and a common deletion, involving exons 6 and 8 in 3 patients. Our strategy of Sanger sequencing followed by MLPA was very successful in detecting CYP21A2 mutations in all patients with CAH

Lung filnctions in poorly controlled type 1 Saudi diabetic children and adolescents

To determine the lung function among Saudi type 1 diabetes mellitus [T1DM] children and adolescents. This study was conducted in the Department of Pediatrics, Division of Pediatric Pulmonology and University Diabetes Centre, College of Medicine, King Saud University, Riyadh, Kingdom of Saudi Arabia from December 2008 to July 2010. A group of 52 [26 male and 26 female] volunteer T1DM children were recruited with an age range from 8-14 years [mean 12.05 +/- 1.42 years], mean duration of disease of 5.25 +/- 0.47 years, and mean glycosylated hemoglobin of 11.27 +/- 0.31%. Spirometry was performed on an Electronic Spirometer [Compact Vitalograph, Stockwell, London, UK]. Pulmonary function in children with diabetes showed significant lower mean values of actual lung function parameters forced vital capacity [FVC], peak expiratory flow [PEF], and maximum mid expiratory flow rate [MMEF] compared to their predicted values. However, there was no significant reduction in the actual forced expiratory volume in the first second [FEV1], and FEV1/FVC% compared to their predicted values. The actual lung function data among Saudi T1DM children and adolescents showed significantly lower values of FVC, PEF, and MMEF compared to the predicted lung function data

Pseudohypoparathyroidism type 1b; a rare cause of femoral neck fracture

A 6-year-old boy was seen in general pediatric clinic for assessment of possible rickets. He had hypocalcaemia and hyperphosphatemia. Serum calcium 1.47 mmol/L, phosphorus 2.5 mmol/L and alkaline phosphatase 1957 IU/L were recorded. Radiological X-ray of the hip showed multiple lytic lesions. The diagnosis of rickets was postulated with secondary hyperparathyroidism and was started on Vitamin D3 and oral calcium. He was treated for rickets at the age of one year. Parents were consanguineous. At the age of seven years, he presented to the emergency room with left femoral neck fracture following a minimal trauma which required open reduction and internal fixation. Physical examination revealed no dysmorphic features. Biochemical investigations revealed normal complete blood count, liver and renal functions and arterial blood gas. However, serum calcium was low 2.0 mmol/L, phosphorous 2.1 mmol/L and alkaline phosphatase 1752 IU/L, serum PTH was high 1406 ng/L with normal 25 [OH] Vit. D3 and 1,25 [OH][2] Vit. D3. Pseudohypoparathyroidism [PHP] is an uncommon metabolic bone disorder characterized by biochemical hypoparathyroidism [i.e.,hypocalcaemia and hyperphosphataemia], increased secretion of parathyroid hormone [PTH], and target tissue unresponsiveness to the biological actions of PTH. In addition, many patients with PHP exhibit a distinctive constellation of developmental and skeletal defects. Pseudohypoparathyroidism type 1b can be presented as skeletal fractures. We highlight the importance of this rare cause in differential diagnosis