Celiac disease in children with short stature: a hospital based study

To identify the prevalence of celiac disease [CD] among children with short stature. Celiac disease [CD] is genetically determined gluten-sensitive enteropathy resulting in nutrient malabsorption, with an increasing incidence world-wide. A retrospective, hospital based study is conducted at a pediatric endocrine clinic, King Khalid University Hospital, Riyadh. During the period between January 1990 and December 2009, the medical records of patients evaluated for short stature were reviewed. After a proper detailed history and physical examination, growth analysis, followed by radiological [bone age], and laboratory screening [CBC, and thyroid function] were performed. Celiac serological screening and chromosomal analysis were performed when appropriate, followed by small intestinal biopsy if indicated. Growth hormone stimulation test was performed in suspected patients, followed by magnetic resonance imaging [MRI] in positive cases. Hundred and ten patients were evaluated for short stature over the period under review. Their age ranged from 2.6 to 14 years. The male to female ratio was 1.3:1. The commonest cause was genetic and found in approximately 51.8%, while in the other 48.2%, variable endocrine and non-endocrine causes were noted. Of the non-genetic short stature, 5 [10%] patients were found to have celiac disease, i.e. 4.5% of short children. The prevalence of celiac disease is not rare in this study, therefore, celiac disease must be considered as an important cause of short stature. As, it could be a silent disease, it is recommended that a serological screening be done first to all patients before performing dynamic growth hormone testing in the evaluation of short stature

Spectrum of endocrine disorders at the paediatric endocrine clinic, king khalid university hospital, Riyadh, Kingdom of Saudi Arabia

Paediatric endocrinology is a well-established, expanding sub-speciality; therefore, paediatricians must be trained to meet the increasing requirements. The aim of this study was to present the pattern of endocrinopathy seen in a specialized clinic. A retrospective review was conducted of cases of endocrine disorders seen between December 1989 and December 2009 at the Paediatric Endocrine Clinic, King Khalid University Hospital, King Saud University, Riyadh, Saudi Arabia. Rickets was common at all ages [99 patients], the main cause being nutritional. Ambiguous genitalia were also common [81 patients]; congenital adrenal hyperplasia was the predominant cause [96%] in 46 XX genetic females. Short stature was a frequent reason for referral [68 patients], with familial short stature as the commonest cause [54.4%]. Obesity was diagnosed in 43 patients and was due to nutritional factors in 72% of cases. Central diabetes insipidus was found as an isolated autosomal dominant condition and also in conjunction with other hormonal deficiencies. Carbohydrate metabolic dysfunction was common in infants and children, with an increasing prevalence of type 1 diabetes mellitus. A programme to detect neonatal congenital hypothyroidism was effective in minimizing sequel; congenital hypothyroidism was diagnosed in 16 patients before the programme, and 134 cases were detected by screening. Graves disease was diagnosed in five patients and Hashimoto thyroiditis in 20 patients, associated with type 1 diabetes mellitus in six and Down syndrome in three. The frequency and pattern of endocrine disorders indicate the need for well-trained paediatricians to improve the health of the population.

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

Ambiguous genitalia: two decades of experience

Ambiguous genitalia is a complex, medical and social emergency. The aim of this study is to present our experience over two decades, focusing on the pattern and clinical presentation. A retrospective study conducted in the pediatric endocrine clinic at a university hospital in Saudi Arabia during the period 1989-2008. Medical records of children with ambiguous genitalia were reviewed and the genitalia described. Of the 81 children with ambiguous genitalia, 53 [65.4%] patients were genetically females [46XY], with congenital adrenal hyperplasia being the common cause in 51 [96.5%] patients. Hyperpigmentation, variable degrees of salt wasting and a family history of a similar problem helped in diagnosis. Male genetic sex [46XY] was present in only 28 [34.6%] patients with a diversity of causes; multiple congenital anomalies in 9 [32.1%], local anorectal anomalies in 2 [7.1%], congenital adrenal hyperplasia [3-[beta-hydroxysteroid dehydrogenase deficiency] in 2 [7.14%], 5-alpha-reductase deficiency in 4 [14.28%], partial androgen insensitivity in 3 [10.7%], complete androgen insensitivity in 4 [14.28%], and hypogonadotrophin deficiency in 4 [14.3%]. Twenty-five [47.2%] of females were wrongly assigned as males, where only two [7.1%] males were wrongly assigned as females. Ambiguous genitalia, currently termed disorders of sex development [DSD], is not uncommon in our community. Increased awareness, a detailed history, and a careful physical examination, coupled with appropriate laboratory and radiological investigations aid in early diagnosis and avoid serious sequelae

Ambiguous genitalia, two decades of experience: clinical management and sex assignment

Ambiguous genitalia constitute a major social and medical emergency. This study was conducted to assess the relevant clinical significance of this important clinical entity. During the period 1989-2008, eighty-one patients with ambiguous genitalia were evaluated in a Pediatric Endocrine Clinic at King Khalid University Hospital [KKUH], Riyadh, Saudi Arabia. Of these 53 [65.4%] were genetically females [46XX], and 28 [34.6%] were having a male genetic sex [46XY]. The majority of them were proven to have congenital adrenal hyperplasia. Twenty-five [47.2%] of the genetic females were wrongly assigned a male sex due to severe virilization while only two [7.1%] of the genetic males were wrongly assigned as females. Although early neonatal diagnosis facilitates appropriate management, socio- cultural factors such as a bias concerning the male gender in the community and strong influence of the grandparents constitute major management obstacle. All genetic males who were wrongly assigned as females accepted re-assignment, and four [16%] of the 25 genetic females who were wrongly assigned as males refused re-assignment. A team approach is mandatory for successful management. Guidelines for approaching the problems are also highlighted

Neonatal screening for congenital hypothyroidism in Riyadh: Analysis of six years' experience

The regional screening program for congenital hypothyroidism [CH] in Riyadh Province was started as a pilot study in December 1988. By September 1990, the program covered all deliveries at the Ministry of Health [MOH] and King Saud University hospitals. The program utilizes cord serum thyroid-stimulating hormone [TSH] with a low recall rate of 0.1%. The average cost per specimen was SR 12 [US$ 3.20]. Among 283,647 infants screened, 83 infants were confirmed to have CH [incidence 1:3417]. In 17 infants, however, the diagnosis was not confirmed due to difficulties in recall. Eleven infants with cord serum TSH of more than 100 mU/L proved to be clinically and biochemically euthyroid at recall. Three of these were secondary to maternal propylthiouracil [PTU] therapy. The female to male ratio was 1.5:1. The majority of infants lacked clinical symptoms and signs of hypothyroidism. Thyroid scans showed the most common etiology to be thyroid ectopy [50%], followed by dyshormonogenesis [26%] and athyrosis [24%]. Although there was no significant difference in the mean cord T [4] values among the different groups, the mean T [4] value at recall in the athyrotic group was significantly [P <0.001] lower than the cord results [14.8 versus 62.7] and that is of recall for the ectopic and dyshormonogenesis groups [14.8 versus 47.0 and 51.3 respectively]. There was no significant difference in the mean TSH among the different groups in the cord and recall samples. Skeletal maturation was more delayed in the athyrotic group. The mean age at the time of recall was 16.4 days [range 4 to 64], and the mean age at the start of therapy was 17.8 days [range 5-64]

Children's discharge against medical advice: Is it a problem?

To highlight the magnitude of and identify the factors contributing to children's discharge against medical advice. A prospective, standardized questionnaire interview, covering a 2-year period from 1 January 1990 to 31 December 1991. King Fahad Hospital, Al-Baha, Saudi Arabia Parents of children who were discharged against medical advice. Of 2783 paediatric admissions, 49 [1.8%] were discharged against medical advice. Unfortunately, among these were children with life-threatening conditions. The presence of other siblings at home, false parental judgement of improvement and level of education were found to have significant bearing. Although the study showed a low prevalence, there is still a need for health care providers to be aware of the problem. Further prospective multicentre studies to identify the magnitude, pattern, and risk factors are warranted. Legislation with a clear policy should be formulated by the authorities to protect children who are at risk

Congenital adrenal hyperplasia in a referral hospital in Saudi Arabia: Epidemiology, pattern and clinical presentation

Eighty-two children [30 males and 52 females] with congenital adrenal hyperplasia [CAH] were seen at King Khalid University Hospital [KKUH] over a 10-year period. Of these, 74 [90.2%] were Saudis and eight [9.8%] non-Saudis. Fifty-nine [72%] patients were 21-hydroxylase deficient. Of these, 56 [95%] had variable degrees of salt depletion. Nineteen [23.2%] patients had a deficiency of 11-Beta-hydroxylase enzyme and four [4.8%] showed deficiency of 3-Beta-hydroxysteroid dehydrogenase. The consanguinity rate was high [71.2%] and positive family history was documented in 45.8%. Thirty-nine infant deaths occurred within 25 families. The diagnosis was often delayed. Of the 52 females, 27 [52%] were initially assigned male sex. These results indicate the importance of physicians' awareness and the need for a neonatal screening program for early detection and appropriate management

Congenital hypothyroidism: clinical and laboratory characteristics in infants detected by neonatal screening

A pilot cord serum thyroid-stimulating hormone [TSH] screening program for congenital hypothyroidism began in December 1988 at the Ministry of Health Maternity Hospitals in Riyadh. Out of 40,000 infants screened, 15 infants with congenital hypothyroidism have been detected. Of these, five had athyreosis, eight with ectopic thyroid glands, interestingly five of which had positive perchlorate discharge test suggestive of organification defects, and two had normally located glands with a perchlorate discharge test suggestive of organification defects. The female to male ratio was 1.5:1. The clinical characteristics in our cases were not different from that previously reported. Although there was no significant difference in the mean cord T4 values among the different groups, the mean T4 values at recall in the aplastic group is significantly [P < 0.001] lower than the cord results [60.3 versus 15.3] and that is of recall for the ectopic group [15.3 versus 47.0]. There was no significant difference in the mean TSH among the different groups in the cord and recall samples. The skeletal maturation was more delayed in the athyrotic group. The mean age at the time of recall was 17.8 days [range 6 to 64] and the mean age at the start of therapy was 20 days [range 8 to 64]