Congenital para-oesophageal hiatal hernia (PEHH) is a rare problem in infancy, however, it constitutes a clinical entity that mandates surgical repair once the diagnosis is made. In the paediatric age group, acquired PEHH has been described as a major complication in a number of patients who were treated surgically for gastro-oesophageal reflux (GER) by Nissen fundoplication. PEHH is a frequently encountered condition in elderly patients; it accounts for 5% of diaphragmatic hiatal hernias. In both paediatric and adult patients PEHH, whether congenital or acquired in origin, is usually associated with potentially lethal complications such as gastric volvulus, incarceration, and perforation. In clinical practice true PEHH is extremely rare. The term has been expanded to include large gastric hiatal hernias where most of the stomach and the gastro-oesophageal junction are in the chest. Six infants with congenital PEHH are presented, together with an attempt to understand its possible aetiology and a review of its current surgical management.

Twenty-eight children with ambiguous genitalia were seen at King Khalid University Hospital over a 6-year period. The incidence of this disorder was 0.4/1000 live births. Of the total, 21 (75%) were Saudis and seven (25%) were non-Saudis. The consanguinity rate was 67.9%. Twenty-four (85.7%) were born in hospital and four (14.3%) at home. In only three (10.7%) was the news first broken to the parents by a senior doctor, in 13 (46.4%) by a junior doctor, and in 11 (39.3%) by a nurse. Ambiguous genitalia were observed in 22 (78.6%) at birth and in six (21.4%) were picked up later. Owing to a lack of immediate investigative facilities and for some socio-cultural reasons, 19 of the latter groups were assigned sex without prior investigations. There was an obvious preference to assign male sex. On investigation, 13 (46.4%) had XX chromosomes, 11 (39%) XY and one (3.6%) XO: in three (10.7%), chromosomal results were not available. There were 14 cases (50%) of congenital adrenal hyperplasia, two of 5-alpha reductase deficiency (7.1%), and five of testicular feminization syndrome (17.9%), in addition to others. After investigation, five (17.9%) of the children needed sex reassignment. This was accepted by two and rejected for socio-cultural reasons by three. The opinion of the religious leaders was obtained. Some recommendations on management of these cases are made, based on our local experience.

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 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 adrenal hyperplasia (CAH) results from an inherited defect in any of the five enzymatic steps required to synthesize Cortisol from cholesterol. A defect in a particular step may manifest clinically, not only because Cortisol and other steroid hormones are not synthesized effectively but also because precursor steroids proximal to the blocked step may accumulate and be shunted into other metabolic pathways, particularly that of androgen.1,2Significant differences in the incidence rate and pattern of CAH have been reported in different regions of the world. In about 90 percent of cases, the deficient enzyme is 21-hydroxylase and 5% to 8% of cases are associated with a deficiency of 11-ß-hydroxylase. The remaining enzyme defects are very rare. [3][4][5][6][7][8][9][10][11] In Saudi Arabia, there are no precise data on the prevalence and pattern of CAH; however, there is an impression fostered by the clinical experience that this is not an uncommon disease. This is supported by Abdullah et al. 12 and Salman et al. 13 in their limited reports from two different centers in Riyadh. This article describes the epidemiology, pattern and clinical presentation of 82 infants and children with CAH who were seen at King Khalid University Hospital (KKUH), Riyadh, Saudi Arabia over a period of 10 years. KKUH is one of the major referral hospitals in the central region of Saudi Arabia, and provides primary, secondary and tertiary health care services to the local population and also receives patients referred from all over the country. Issues related to problems of management will be the subject of another contribution. Material and MethodsRecords of all infants and children under the age of 12 years who were born in or referred to the Pediatric Endocrine Unit at KKUH, Riyadh during the period from January 1984 to December 1993 with the diagnosis of CAH were reviewed. Data including age, sex, nationality, place of origin, clinical presentation, relevant family history and results of all the laboratory and ancillary investigations were obtained. Information was supplemented when possible by interviewing the families of the patients.Diagnosis of CAH was su...

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