Symptomatic cycling Cushing disease managed by simultaneous bilateral laparoscopic adrenalectomy in a 11-year-old boy.

We report symptomatic cycling Cushing disease in a 11-year-old boy that was managed with simultaneous bilateral laparoscopic adrenalectomy. Positioning and the surgical technique have been fully described. Excellent results were achieved. Recent application of laparoscopic adrenalectomy for various adrenal pathology is highly effective and offers better results than open surgery. Post-operative recovery after laparoscopic technique is significantly shorter than the open technique.

Congenital hypothyroidism.

Congenital hypothyroidism (CH) is defined as thyroid hormone deficiency present at birth. Babies with CH who are not identified and treated promptly develop severe mental retardation. Most of the babies with CH do not manifest the typical known signs and symptoms of hypothyroidism, and this is most likely due to transplacental passage of some maternal thyroid hormone in addition to some residual neonatal thyroid function, as might be seen with thyroid hypoplasia, an ectopic gland, or mild dyshormonogenesis. Screening for CH has enabled the virtual eradication of the devastating effects of mental retardation due to sporadic CH in most developed countries of the world. CH is classified into permanent and transient forms, which in turn can be divided into primary, secondary, or peripheral etiologies. Permanent CH refers to a persistent deficiency of thyroid hormone that requires life-long treatment. Transient CH refers to a temporary deficiency of thyroid hormone that is discovered at birth but recovers to normal in the first few months or years of life. In the last several decades, there have been exciting advances in our understanding of fetal and neonatal thyroid physiology. In addition, advances in molecular biology have helped in understanding the early events in thyroid gland embryogenesis, mechanisms of thyroid action in the brain, the molecular basis for many of the inborn errors of thyroid hormonogenesis, and thyroid hormone action. However, many questions and challenges are still not answered. For example, the increasing numbers of surviving small and premature neonates with abnormalities in thyroid function need definite diagnostic criteria and whether they require medical therapy. Another challenge is the dilemma of finding the best screening methodology that is sensitive and cost effective.

Incidence trends of childhood type 1 diabetes in eastern Saudi Arabia.

OBJECTIVE: To assess the epidemiology and incidence rate of type 1 diabetes in children <15 years of age in a subpopulation in the eastern province of the Kingdom of Saudi Arabia (KSA). METHODS: This is a subpopulation-based observational incidence study. Admission dates, diagnosis, age, and gender were collected for all Saudi children <15 years of age with new onset type 1 diabetes that received medical care at the Saudi Aramco Medical Services Organization, Dhahran Health Center, Dhahran, KSA during the period 1990-2007. The case ascertainment rate was estimated to be 100%. RESULTS: There were 438 patients diagnosed during the study period. The average incidence rate was 27.52/100,000/year (95% CI: 26.72-28.32), increasing from 18.05/100,000/year in the first 9 years of the study period to 36.99/100,000/year in the last 9 years. Twenty-one percent of patients were <5 years of age, with no significant difference in the rate of increase in the incidence rate of this age group compared to the older age groups. Of the total patients, 55% were females, and 40% presented with diabetic ketoacidosis. CONCLUSION: The incidence rate of childhood type 1 diabetes increased alarmingly over the past 18 years in our study population. A Kingdom-wide diabetes registry is essential to study the epidemiology of this disease in the whole country.

Persistent hyperinsulinemic hypoglycemia of infancy (PHHI): Long-term outcome following 95% pancreatectomy.

OBJECTIVE: To evaluate the outcome of neonates and infants with persistent hyperinsulinemic hypoglycemia of infancy (PHHI) who had undergone 95% pancreatectomy, with special emphasis on development of diabetes mellitus (DM). METHODS: Ten infants diagnosed according to the established criteria of PHHI, and who had undergone 95% pancreatectomy, were followed for a period ranging from 1-20 years (mean 13(4/12) years). A retrospective analysis of their data was carried out with special emphasis on growth and development, glycemic control, neurological status and school performance. The data on weight, glycemic control and daily insulin requirement were compared with a control group of ten children with type 1 DM (DM1), matched for age and sex. RESULTS: All ten children ultimately developed DM; three of them immediately following pancreatectomy and the remainder after a variable period ranging from 7(1/4)-11(1/2) years (mean: 8(11/12) years). Data on their weight, HbA1c levels and daily insulin requirements when compared to ten children with DM1 showed no statistically significant difference in these biological variables. All the children, with the exception of one who sustained subarachnoid hemorrhage, cerebral edema and seizures in the neonatal period, were neurologically and developmentally normal. None exhibited clinical manifestations of pancreatic exocrine deficiency. CONCLUSION: 95% pancreatectomy is an effective treatment modality in PHHI not responding to medical treatment. In our experience; recurrence of hypoglycemia following surgery is uncommon and responds well to medical treatment. There is a high risk of secondary DM in these children; however, the serious risk of brain damage and neurological abnormalities could be avoided by early surgical intervention. Children in this study did not show any signs or symptoms of malabsorption.

A genetic isolate of congenital lipoid adrenal hyperplasia with atypical clinical findings.

Congenital lipoid adrenal hyperplasia (lipoid CAH) is the most severe form of CAH, eventually destroying all adrenal and gonadal steroidogenesis. Lipoid CAH is caused by mutations in the steroidogenic acute regulatory protein (StAR), which facilitates the entry of cholesterol into mitochondria to initiate steroidogenesis. Patients with lipoid CAH typically present with a salt-losing crisis in the first 2 months of life, although presentation as late as 10 months with partial retention of StAR activity has been reported. We describe eight patients from six Saudi Arabian families who were first diagnosed at 1-14 months of age (median, 4-7 months; mean, 7 months). Five patients were 46,XY, and three were 46,XX. At presentation, all had hyponatremia, hyperkalemia, elevated ACTH, and low cortisol. Pregnenolone, progesterone, 17-hydroxypregnenolone, 17-hydroxyprogesterone, testosterone, androstenedione, and dehydroepiandrosterone sulfate were all low in those patients in whom it was measured. DNA sequencing showed that one patient was homozygous for the StAR mutation M144R, and the other seven, from five apparently unrelated families, were homozygous for the StAR mutation R182H. Each mutation was recreated in a human StAR cDNA expression vector and found to be wholly inactive in a standard assay of COS-1 cells cotransfected with the cholesterol side-chain cleavage enzyme system. Thus, the loss of all assayable activity in vitro correlated poorly with the later onset of clinical symptoms in these patients. Lipoid CAH may present much later in life than previously thought.