The hymen morphology in normal newborn Saudi girls.

BACKGROUND: Hymen morphology has a medico-legal importance. In view of the lack of national norms, establishing the hymen morphology of Saudi newborn infants is essential. SUBJECTS AND METHODS: Over a period of 4 months, the genitalia of 345 full-term female newborn infants were examined to determine the shape of the hymen. A previously described labia traction technique was used to classify the hymen morphology into annular, sleeve-like, fimbriated, crescentric, and other types. RESULTS: The hymen was present in all 345 female newborn infants examined. A total of 207 (60%) were of the annular type, 76 (22%) were sleeve-like, 43 (12.5%) fimbriated, 17 (4.9%) crescentric, and 2 (0.6%) of other types. CONCLUSION: The most common hymen morphology in Saudi newborn girls was annular, followed by sleeve-like, fimbriated, and crescentric. This study may be the first to define normal configuration of the hymen in this community.

Growth hormone deficiency in autoimmune polyglandular disease type 1.

This is a case report of 2 patients who were diagnosed to have autoimmune polyglandular disease type 1. Both developed mucocutaneous candidiasis, hypoparathyroidism, vitiligo, and adrenocortical insufficiency. Both were noticed to have subnormal linear growth velocity and delayed bone age. Both showed subnormal stimulated serum growth hormone values indicating growth hormone deficiency. The first case showed favorable response to growth hormone therapy.

Growth hormone: do we have a national perspective of indications for its use?

OBJECTIVE: Presentation of indications for growth hormone use in children, from the view of physicians practising in Saudi Arabia. METHODS: A questionnaire containing a list of common possible indications of growth hormone use was collected from 52 physicians practising in Saudi Arabia who were attending a didactic endocrinology course. RESULTS: All (100%) physicians considered growth hormone deficiency to be an indication. Sixty four and 29% considered Turner's syndrome and chronic renal failure to be indications. Other indications included Russell-Silver syndrome in 23%, X-linked hypophosphatemic rickets in 10%, Achondroplasts in 10%, Sickle cell anemia in 10% and Bartter's syndrome in 2%. Genetic and constitutional short stature were considered in 17 and 19%. Only 65% did not advocate the use of growth hormone for short non-growth hormone-deficient children. CONCLUSION: Indications of growth therapy are not clearly defined in Saudi Arabia. It is indicated to define this by a clear, national decided criteria which should take into consideration the internationally approved indications, availability and cost of this hormone.

Familial occurrence of congenital hypothyroidism due to lingual thyroid gland.

Two sisters who presented with midline neck masses proved to be biochemically hypothyroid. Thyroid scintigraphy supplemented with perchlorate discharge testing showed lingual thyroid glands and ruled out the expected autosomal recessive organification defect. The related literature is reviewed.

Childhood obesity: referred cases to a tertiary health center in Riyadh, Saudi Arabia.

OBJECTIVE: To show the pattern of etiology of childhood obesity referred to our endocrinology clinic between December 1989 and December 1994. SUBJECT AND METHODS: All the children referred to our clinic at the above stipulated dates were studied. This is a retrospective medical records review of these patients. The patients' height and weight were measured by trained staff of the clinic. The Quetelet index also known as Body Mass Index (BMI) was calculated as weight (kg)/height (m)2 for each patient. Laboratory data as well as results of clinical investigations were also obtained from the records of the patients. RESULTS: 52 patients with ages ranging between 2 years and 16 years (median 8 years) were studied. Male:female ratio was 1:1.35 (67.3%) of the patients were Saudis while 17 (32.7%) were non-Saudis. The etiology of obesity among the series were nutritional 46 (88.5%), Prader-Willi Syndrome 3 (5.8%), Laurence-Moon-Biedl Syndrome 1 (1.9%), pseudohypoparathyroidism 1 (1.9%) and hypothyroidism 1 (1.9%). The study showed that the majority of the patients had simple nutritional obesity.

Criteria for diagnosis of growth hormone deficiency: Does it exist?

Full text is available as a scanned copy of the original print version.

Osteopetrosis in children.

Over a 10-year period, 28 Arab children with autosomal recessive osteopetrosis were seen in two hospitals in Riyadh, Saudi Arabia. Eighteen (64%) had osteopetrosis associated with metabolic acidosis probably due to a renal tubular defect; nine (32%) had a malignant infantile form of osteopetrosis and one had a mild form with delayed onset. Parental consanguinity was 56% and 40% among patients with and without acidosis respectively. Somatic and psychomotor retardation and recurrent bone fractures were common in both groups. Dental caries, cerebral calcification and optic atrophy were more frequent in patients with acidosis, while anaemia, hepatosplenomegaly and deafness were more common in patients without acidosis. To guarantee optimal rehabilitation, children with this progressive disease require an early multiteam approach.

Congenital anomalies in infants with congenital hypothyroidism: is it a coincidental or an associated finding?

During the period between December 1988 and February 1995, a total of 279,482 newborn infants were screened in the regional neonatal screening program for congenital hypothyroidism (CH) in Riyadh province, Saudi Arabia. Eighty-one infants were confirmed to have CH giving an incidence of 1 in 3,450. Variable congenital anomalies, other than those of the thyroid gland, were present in 16 (19.8%). The anomalies most frequently encountered were congenital heart defects (7), unclassified multiple congenital anomalies (5) and Down's syndrome (2). The results of our study confirm this association, and emphasize the need to search for such anomalies in infants born with CH. Nationwide studies, however, on birth defects in the general population and those associated with CH are still needed to help us understanding the role of local genetic and environmental factors.

Childhood goitre in Saudi Arabia.

Thirty-two Saudi children (aged 1.5-14 years) with goitre were seen over a 6.5-year period in a paediatric endocrinology clinic. There was a female to male ratio of 1.9:1. Of these, 27 (84.3%) had diffuse thyroid enlargement and five (15.7%) nodular goitre. The commonest causes were dyshormonogenesis (37.5%) followed by Hashimoto's thyroiditis (34.4%). Three boys and one girl had Graves' disease. There were three (9.4%) with simple goitre and one case each of iodine deficiency goitre and tuberculous thyroiditis. Further study of the prevalence and causes of goitre, including iodine deficiency goitre, in Saudi Arabia is suggested.

Congenital hypothyroidism: increased incidence in Najran province, Saudi Arabia.

Neonatal screening for congenital hypothyroidism using cord serum thyroid-stimulating hormone (TSH) was initiated in Najran health region in September 1990. A total of 30810 newborn infants were screened by April 1995. Of the 24 infants with abnormal thyroid function tests on recall, 22 had permanent primary congenital hypothyroidism (incidence; 1:1400) and in two male siblings transient congenital hypothyroidism (incidence; 1:15400) was proved on follow-up. There was a significantly higher incidence of dyshormonogenesis. Eight (57 per cent) of the 14 infants who were adequately studied thyroid scan revealed ectopic glands with increased 99mTc uptake, while thyroid ectopy and aplasia were present only in three (22 per cent) infants each. Furthermore, goiter was evident clinically in two other patients.

The pattern of growth and obesity in Saudi Arabian male school children.

OBJECTIVE: To determine the prevalence of overweight and obesity among male school children in Saudi Arabia and provide a growth chart for males 6-18 y old. DESIGN: Three stage stratified cluster sampling procedure. SUBJECTS: The study population was 9061 male school children, attending public schools in Saudi Arabia. Their ages ranged from 6-18 y and covered all the 12 grade levels of school. Children with evidence of chronic or acute diseases were excluded from the study. MEASUREMENT: Structured questionnaire, including: location of school, socio-demographic characteristics and age of the student. Anthropometric measurements of weight and height was done for all the study sample. Growth charts were designed through fitting the polynomial regression model of degree three. The percentage of body mass index (BMI) of expected BMI at the 50th percentile for each age group was computed. The 50th percentile of The National Center for Health Statistics/Center for Disease Control reference population was used as the expected standard population values for defining childhood overweight and obesity. RESULTS: The overall prevalence of overweight was 11.7% and obesity 15.8%. There was a statistically significant variation in the regional distribution of overweight and obesity (P < 0.01). The highest prevalence (18.0%) was recorded in Riyadh, capital of Saudi Arabia, and the lowest was in Sabea (11.1%) located in the Southern region. CONCLUSION: These findings of a high prevalence of childhood obesity when compared with the NCHS/CDC calls for an early health education program on the appropriate choice of diets for growth, health and longevity. However, because of the possible ethnic differences between the Saudi and American populations, the growth charts presented could serve as a better reference for future comparisons.

Renal sonographic patterns in Bartter's syndrome.

The renal sonographic findings in ten cases of Bartter s syndrome investigated at the King Khalid University Hospital, Riyadh, Saudi Arabia are described. There were various sonographic abnormalities other than those of hyperechoic pyramids as previously described. These were diffuse increased renal echogenicity and hyperechoic echogenicity in the kidneys with the exception of the pyramids. This condition can be suspected early if nephrocalcinosis is present in a child with a history of polyhydramnios and premature delivery.

Sex reassignment: A challenging problem - current medical and islamic guidelines.

Sexual ambiguity is a complex and often confusing medical problem. In addition to the life-threatening adrenal crises which may accompany some forms, ambiguity of the genitalia may lead to incorrect sex assignment by parents and/or health personnel. Children who present to medical attention beyond the neonatal period constitute a challenging problem due to the grave consequences of this condition. Thirty cases in whom sex reassignment was indicated were seen at King Khalid University Hospital, Riyadh, over a 10-year period. Of these, 27 (90%) were genetic females (20 were 21- and seven were 11-hydroxylase deficient) and three (10%) were genetic males (two partial androgen insensitive and one 5alpha-reductase deficient). All genetic males who were incorrectly assigned as females accepted reassignment. But 9 out of 27 (33%) of the genetic females who were incorrectly assigned as males refused reassignment. Preference for male sex assignment, delayed diagnosis and sociocultural circumstances seem to be the contributing factors for refusal. A national consensus about this important issue strengthened by the existing religious recommendations in demanded.

Neonatal screening for congenital hypothyroidism in Riyadh: Analysis of six year's 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 proplthiouracil (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 T4 values among the different groups, the mean T4 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 respectively0. There was bo 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).

Severe hypertension: an unusual presentation of Guillain-Barré syndrome in a child with brucellosis.

UNLABELLED: A 9-year-old girl suffered from protracted paroxysms of severe hypertension before she developed classical signs of Guillain-Barré syndrome. Significant brucella antibody titres were found in the serum and CSF. Complete recovery was observed after appropriate therapy. CONCLUSION: Brucella organisms should be sought as a possible aetiological agent of Guillain-Barré syndrome in patients living in or coming from endemic countries.

Diphallus associated with a third ectopic urethra.

A case of diphallus is reported in a Saudi male born with two independent phalli with two urethras, the right urethra being joined by a third urethra opening on the perineum. In addition, the child had an absent right 1st rib, a 3rd thoracic hemivertebra, an absent left kidney, and a spinal lipoma.

Bone scintigraphy and densitometry in children with osteopetrosis.

Bone scintigraphy and dual x-ray absorptiometry were performed in 18 children (8 males, 10 females) with clinical and radiologic diagnoses of osteopetrosis in order to demonstrate the scintigraphic features of this rare disorder and to measure the bone mineral density. Their mean age was 9 years (range, 3-16 years). Bone scintigraphy demonstrated characteristic features of a widened metaphysis of all long bones that showed increased tracer uptake, particularly in the distal femur and proximal tibia. Dual x-ray absorptiometry of the lumbar spine, three femoral sites, and total body showed a marked increase in bone mineral density. The mean values for bone density of the lumbar spine and greater trochanter were markedly elevated than were other sites. Compared with a normal group matched for age and gender, the increase in bone mineral density was 181% for the lumbar spine and 193% for the greater trochanter. The authors concluded that bone imaging and bone densitometry are useful in establishing the diagnosis of osteopetrosis by demonstrating increase tracer uptake in the widened metaphysis and increased bone density. Bone densitometry may be of prognostic value in follow-up, especially in monitoring the response to therapy.

Congenital adrenal hypoplasia: A disorder frequently missed.

Congenital adrenal hypoplasia is a rare disease which is known to cause severe salt wasting in the neonatal period. In this report, we describe three patients from two different families who were seen at King Khalid University Hospital, Riyadh, Saudi Arabia. All patients presented with classical clinical, biochemical, hormonal and radiological findings of congenital adrenal hypoplasia. To the best of our knowledge, no similar cases were reported from this part of the world.

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-ss-hydroxylase enzyme and four (4.8%) showed deficiency of 3-ss-hydroxysteroid dehydrogenase. The consanguinity rate was high (71.2%) and positive family history was documented in 45.8%. Thirty-nine infants 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.