Vitamin D levels in Saudi children with type 1 diabetes

To assess the prevalence of vitamin D deficiency in type 1 diabetic [T1DM] children. In this prospective cross-sectional study, we included 100 Saudi children with T1DM attending the Pediatric Endocrinology and Diabetes Clinics, and 100 healthy controls from the Department of Pediatrics, Security Forces Hospital, Riyadh, Kingdom of Saudi Arabia from June to September 2010. We measured serum 25-hydroxy vitamin D [25OHD], parathyroid hormone, calcium, phosphate, and alkaline phosphatase in these patients, and compared the results with age, gender, and ethnicity-matched control subjects. The mean levels of 25OHD were significantly lower in the T1DM children compared to the controls [36.7 +/- 14.3 nmol/l versus 44.8 +/- 14.1 nmol/l]. In the T1DM children, 64% were mildly, 16% were moderately, and 4% were severely vitamin D deficient as compared with 52% [mildly], 6% [moderately], and 1% [severely] in the control group. Overall, 84% of the T1DM children, and 59% of the healthy children were vitamin D deficient. There was no correlation between glycemic control and 25OHD level. Prevalence of vitamin D deficiency in diabetic children is relatively high. Therefore, screening for vitamin D deficiency and supplementation of children with low vitamin D levels should be warranted

Autoimmune polyglandular syndrome type 1 in Saudi children

To describe the clinical, biochemical, and immunological manifestations of autoimmune polyglandular syndrome type 1 [APS-1] in a Saudi population. The medical files of 7 consanguineous Saudi families with 20 affected siblings were retrospectively reviewed. They were followed at the Pediatric Endocrinology Clinic, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia for a mean duration of 6 years [January 2000 to December 2009]. The age of the affected children ranged from 2-17 years. The included patients had at least 2 out of the 3 major clinical diagnostic criteria of APS-1. Fourteen children had neonatal chronic mucocutaneous candidiasis affecting the nails and mouth. The most commonly presenting endocrine disease among APS-1 patients was hypoparathyroidism. Eight patients had autoimmune Addison's disease. Hypothyroidism was diagnosed in 3 patients, and 9 patients had alopecia universalis. Other endocrine and autoimmune disorders were infrequently seen including type 1 diabetes, growth hormone deficiency, celiac disease, autoimmune hepatitis, and keratoconjuctivitis. Autoimmune polyglandular syndrome type 1, although an uncommon disorder in Saudi children affects multiple endocrine glands, and is associated with several autoimmune diseases where alopecia universalis is a common finding

Gender identity in congenital adrenal hyperplasia secondary to 11-hydroxylase deficiency

The psychoendocrinology of the development of gender identity in patients with congenital adrenal hyperplasia [CAH] is poorly understood. Prenatal androgen exposure, postnatal hormonal influence, degree of external genitalia virilization, genital appearance, social rearing and other biological factors, are all thought to have an effect on gender identity development. [1-6] Late diagnosis and referral, which are common problems in our country, might have an adverse effect on normal gender identity development in female patients with CAH [7]. We describe two genetically female sisters with CAH secondary to 11-hydroxylase deficiency who were raised as boys and referred at the age of puberty to our clinic. We believe that the gender identity development in these two patients, who had the same medical and social background, was related to the extent of external genitalia virilization

syndrome of septo-optic dysplasia in Saudi children

To describe the clinical, ophthalmological, endocrinological and radiological features of 10 Saudi children with the syndrome of septo-optic dysplasia and hypothalamic hypopituitarism. All patients underwent complete ophthalmological and endocrinological evaluation at the Pediatric Endocrine Clinics, King Faisal Specialist Hospital and Research Center and King Fahad National Guard Hospital, Riyadh, Kingdom of Saudi Arabia, from October 1999 through to May 2004. The hormonal evaluation included growth hormone, adrenocorticotrophic hormone, thyroid stimulating hormone, gonadotropin and anti diuretic hormone testing, and the neuroradiological assessment included brain magnetic resonance imaging or computed tomogram scanning, or both. The current age of patients ranged from 18- months to 5-years. The mean age of initial presentation for endocrine evaluation was 14-months. Hormonal studies indicated that all children had multiple pituitary hormone deficiencies [2 or more of the pituitary hormones were deficient]. Ten children had growth hormone deficiency, 8 had thyroid stimulating hormone deficiency, 8 had adrenocorticotrophic hormone deficiency, 2 children were suspected to have gonadotropin deficiency and central diabetes insipidus was present in one patient. Pendular nystagmus and impaired vision were common initial signs. All children had bilateral optic nerve hypoplasia. Neuroradiologic findings were variable. Eight children had absent septum pellucidum, 3 had pituitary gland hypoplasia, 2 had pituitary stalk dysplasia [pituitary stalk was either attenuated or not visualized], 2 had absent corpus callosum and one had absent posterior pituitary high intensity signal. All patients were replaced with appropriate hormonal replacement therapy. Two male children had micropenis which responded to testosterone therapy. The syndrome of septo-optic dysplasia is commonly associated with hypothalamic hypopituitarism including anterior and posterior pituitary hormonal deficiencies. Early diagnosis of this syndrome is critical as the hormonal deficiencies can be life threatening

Persistent hyperinsulinemic hypoglycemia of infancy in 38 children

To describe the clinical, biochemical, radiological and electrophysiological features of 38 Saudi children with persistent hyperinsulinemic hypoglycemia of infancy that have been followed since 1983. Data from 38 patients followed at King Faisal Specialist Hospital and Research Centre, Riyadh, Kingdom of Saudi Arabia from 1983 through to 2002 was retrospectively analyzed. Persistent hyperinsulinemic hypoglycemia of infancy was diagnosed on the basis of high intravenous glucose requirement, high insulin to glucose ratio, negative urinary ketones and normal tandem mass spectrometry. The patients were assessed radiologically by brain magnetic resonance imaging, computed tomography, or both and electrophysiologically by brain stem auditory evoked potential, visual evoked response and electroencephalogram. The patients who failed medical therapy had subtotal pancreatectomy. The patients were severely hypoglycemic and intolerant to fast. Hypoglycemic convulsion was the most commonly presenting complaint. Eighteen patients were developmentally delayed and 14 of them had brain atrophy. All patients, except nine, did not respond to medical treatment and had surgery. Four pancreatectomized patients developed diabetes and 2 had malabsorption. One patient was treated medically during childhood and developed diabetes and weight gain during adolescence. Persistent hyperinsulinemic hypoglycemia of infancy is a relatively common and serious disease among Saudi children. Early medical intervention is necessary to avoid neurological damage in our patients who are severely hypoglycemic and medical therapy unresponsive. Surgically and probably medically treated patients are at high risk of developing diabetes that could be the natural outcome of this disease