Incidence of salt-losing form of congenital virilizing adrenal hyperplasia.

Qazi, Qutub H.; Thompson, M W

doi:10.1136/adc.47.252.302

Cited by 32 publications

(8 citation statements)

References 3 publications

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“…Furthermore, the salt-losing syndrome was very frequent in our series compared with that reported in the literature, 80% versus 33 to 75% [9][10][11][12][13]. This emphasizes the need for neonatal screening in the first days of life for infants born into at risk families [11,14,15].…”

Section: Discussionsupporting

confidence: 48%

“…1991; 11(1): [9][10][11][12][13][14] 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.…”

mentioning

confidence: 99%

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Congenital Adrenal Hyperplasia

Salman¹,

Abanamy²,

Basset³

et al. 1991

Ann Saudi Med

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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,

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Section: Discussionsupporting

confidence: 48%

mentioning

confidence: 99%

Congenital Adrenal Hyperplasia

Salman¹,

Abanamy²,

Basset³

et al. 1991

Ann Saudi Med

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“…1,2 While 21 -hydroxylase deficiency remains the most common as in other studies, [3][4][5][7][8][9][10][11]13,15,18,19 it only accounts for 72%. Ninety-five percent of these were salt depleters with variable degrees of severity, a figure higher than previous reports.…”

Section: Table 2 Clinical Data At the Time Of Presentation In Patienmentioning

confidence: 98%

“…6 Early recognition is important to avoid or minimize the unwanted sequelae. [9][10][11]13,15,[18][19][20]22 It is of concern that a majority of our male patients and some of the females were diagnosed after they experienced a salt depletion crisis and another 39 siblings of these cases died in infancy who could have been cases of CAH. Severe virilization of external genitalia in female newborns may lead to an incorrect sex assignment for life or sex reassignment in later life with its attendant psychological damage.…”

Section: Table 2 Clinical Data At the Time Of Presentation In Patienmentioning

confidence: 99%

“…Ninety-five percent of these were salt depleters with variable degrees of severity, a figure higher than previous reports. [3][4][5][7][8][9][10][11]13,15,[18][19][20] The possibility of missing nonsalt depleters could be a cause. However, this is in contrast to Salman et al 13 from another referral center in Riyadh who showed that 92% of his patients were 21-hydroxylase deficient while none were 11-ß-hydroxylase deficient.…”

Section: Table 2 Clinical Data At the Time Of Presentation In Patienmentioning

confidence: 99%

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Congenital Adrenal Hyperplasia in a Referral Hospital in Saudi Arabia: Epidemiology, Pattern and Clinical Presentation

Al-Jurayyan

Al‐Herbish

Bakr

et al. 1995

Annals of Saudi Medicine

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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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Delayed Diagnosis in Congenital Adrenal Hyperplasia

Lebovitz¹

1984

Am J Dis Child

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Incidence of salt-losing form of congenital virilizing adrenal hyperplasia.

Cited by 32 publications

References 3 publications

Congenital Adrenal Hyperplasia

Congenital Adrenal Hyperplasia

Congenital Adrenal Hyperplasia in a Referral Hospital in Saudi Arabia: Epidemiology, Pattern and Clinical Presentation

Delayed Diagnosis in Congenital Adrenal Hyperplasia

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