The incidence of congenital adrenal hyperplasia in Saudi Arabia and the frequency of the carrier rate are not well known. Both figures should be high, considering the commonness of first-degree consanguinity in this part of the world. We present 25 cases of congenital adrenal hyperplasia, most of them due to a defect of the 21 hydroxylase enzyme, diagnosed and followed over three years at Suleimania Children's Hospital in Riyadh. There were ten boys and 15 girls exhibiting all degrees of masculinization, mostly Grade III (53%) and Grade IV and V (13.3% each). The degree of masculinization of the external genitalia in the girls (46XX) was sufficiently pronounced in seven patients to lead to sex identity errors at birth. This aggravated the psychological reactions in the families, particularly before the surgical correction. The frequency of neonatal deaths in the patients' families related to a similar disorder was high (12%). The mean age at onset of the salt-losing crises in affected infants was 9 days in females and 25 days in males and this was the most common clinical presentation of the disorder (80%). Systematic neonatal screening and intrauterine diagnosis in at risk families must be done to provide hormonal intervention and thus prevent the formation of ambiguous genitalia and avoid the resulting plastic surgery that must be performed in female patients. Congenital adrenal hyperplasia is common in Riyadh, where marriages between first-degree relatives are frequent. As everywhere, and particularly under the local sociocultural conditions, discussion is focused on the genetic sex which isnot always easy to determine, depending on the degree of masculinization of otherwise genetically defined females. The surgical correction and the psychological consequences in the affected families also contribute to the problems. Intrauterine and neonatal screening are therefore important. Likewise, intrauterine treatment may prevent genital abnormalities and the neonatal deaths caused by salt-losing crises. The etiology, medical and surgical treatment, and follow-up of clinical, radiological, and biological features are discussed, along with the problems of neonatal and intrauterine screening.
Patients and MethodsCongenital adrenal hyperplasia was diagnosed in 25 patients who were followed up at the Suleimania Children's Hospital in Riyadh over a period of three years. Nationality and supposed sex as well as family history were recorded. The age of onset and clinical presentation, particularly the presence or absence of a salt-losing syndrome,