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.

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

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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.

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.

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.

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.

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).

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.

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.

Ambiguous genitalia: comparative role of pelvic ultrasonography and genitography.

Ambiguous genitalia represents a true medical and social emergency which needs a multi-disciplinary team approach for elucidation. The paediatric radiologist plays an important role in defining the genital anatomy which remains one of the most important factors in sex determination. Aiming to compare the predictive value of pelvic ultrasonography and genitography in sex determination in patients with ambiguous genitalia, we retrospectively reviewed the medical records of 69 patients, 53 females and 16 males, where both procedures were employed. In female pseudohermaphroditism, the presence of a uterus with or without vagina was predicted in 46 (86.8%) patients by ultrasound compared with 44 (83%) patients in whom a genitogram revealed a vagina +/- uterus. In six (11.3%) patients, a genitogram revealed a male-type urethra. The combination of ultrasound and genitogram, however, was more sensitive and predicted the presence of a uterus with or without vagina in 52 (98.1%) patients. In male pseudo-hermaphroditism, there was no false positive by ultrasound, and a genitogram revealed a male-type urethra in 12 (75%) patients. In conclusion, although real time pelvic ultrasonography is less invasive than genitography, its yield in elucidating genital anatomy is comparable. The combination of both procedures is more informative and has a better yield.

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.

The haematological manifestations of visceral leishmaniasis in infancy and childhood.

The haematological manifestations were reviewed in 94 patients (55 males and 39 females) with visceral leishmaniasis. Their ages ranged from 4 months to 12 years (mean per cent 1.8 years). All patients had splenomegaly and were anaemic, while (73 per cent) were neutropenic and (56 per cent) thrombocytopenic. Coagulation abnormalities were encountered in 10 (11 per cent) patients; in four patients this was associated with disseminated intravascular coagulopathy. Bone marrow was hypercellular in (90 per cent), normocellular in (5 per cent), and hypocelluar in (4 per cent). Also variable degrees of erythrophagocytosis and leukophagocytosis were noted with preponderance of histiocytes (46 per cent) and granulomatous formation (25 per cent). Low haemosiderin content in the bone marrow was noted, which together with the finding of high serum ferritin is consistent with anaemia of chronic inflammation. Hypersplenism, haemophagocytosis and granulomatous lesions of the bone marrow, chronic inflammation, and dietary factors appear to be the most important factors in the causation of the haematological changes in visceral leishmaniasis.

Adrenoleukodystrophy: CT and MRI findings.

A case of adrenoleukodystrophy (ALD) with CT and MRI findings is described. The CT scan showed low densities in the white matter of the parietal and occipital lobes. No calcifications were seen. Post-contrast CT showed an abnormal enhancement within the involved white matter. MRI showed changes of demyelination around the atria of the lateral ventricles bilaterally involving the posterior aspect of the cerebrum symmetrically. The posterior part of the posterior corpus callosum, splenium and pyramidal tracts also showed increased signal intensity. From a review of the literature, these findings are typical of the radiological changes seen in ALD. ALD can be diagnosed from typical history and biochemical changes as well as from CT and MRI findings.

Risk of thrombocytopenia in the infants of mothers with idiopathic thrombocytopenia.

Twenty-nine of 27,662 pregnant women had autoimmune thrombocytopenia at the time of delivery at King Khalid University Hospital over 6 years starting June 1986. Twenty-six had idiopathic thrombocytopenic purpura (ITP), gave birth to 33 infants, of which 22 were by spontaneous vaginal delivery, eight by lower segment cesarean section, and two by forceps. Fourteen (44%) of the 32 living infants had platelets less than 150 x 10(9)/L and four (12.5%) had severe thrombocytopenia (platelets less than 50 x 10(9)/L). The mothers' platelets of less than 50 x 10(9)/L at delivery were found to be predictive of thrombocytopenia in their infants (P < 0.027), compared with mothers' platelet of more than 50 x 10(9)/L. Maternal treatment with prednisone did not seem to have significant effect on infants' platelets (P < 0.89). All infants with severe thrombocytopenia (less than 50 x 10(9)/L) at birth had ultrasound done and were found to be normal. We conclude that: (1) steroid given to pregnant women with ITP does not increase infants' platelet counts, (2) severe thrombocytopenia in the mothers (platelet counts less than 50 x 10(9)/L) is highly predictive of thrombocytopenia in their infants; (3) cesarean section should be limited to the mother with severe thrombocytopenia if fetal scalp platelets are less than 50 x 10(9)/L.