A Pilot Newborn Screening for Congenital Adrenal Hyperplasia in Alaska*

Pang, Songya; Murphey, William H.; Levine, Lenore S.; Spence, David; Leon, Antonette E.; LaFranchi, Stephen; Surve, Ali S.; New, Maria I.

doi:10.1210/jcem-55-3-413

Cited by 143 publications

(59 citation statements)

References 21 publications

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“…5,[7][8][9][10]15 In Europe and North America 5,7-10,15 it has been reported to have a prevalence of one in 5000 to 15,000 live births, while in neighboring Kuwait, 4 a figure of one in 9000 live births has been reported. In Saudi Arabia, the overall prevalence of the disease is not known; however, the contention that this is not an uncommon disease is readily supported by the high number of patients in this series as well as the high number of neonatal and infant deaths within the families studied.…”

Section: Discussionmentioning

confidence: 99%

“…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: 98%

“…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: 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%

“…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. 13,15,20,22 Therefore, ambiguity of the external genitalia should alert the physician to the possible diagnosis of CAH and should be considered a medical and social emergency. 12 Unfortunately, 27 (52%) of our 52 females were initially assigned male sex.…”

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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