Newborn screening, prenatal diagnosis, and prenatal treatment of congenital adrenal hyperplasia due to 21-hydroxylase deficiency

Pang, Songya; Clark, Alec

doi:10.1016/1043-2760(90)90068-e

Cited by 55 publications

(24 citation statements)

References 31 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…45,46 The prevalence in specific populations varies, including 1:10,000 -1:23,000 in the United States and Europe, 47 1:21,000 in Japan, 48 1:27,000 in New Zealand, 49 and 1:6,000 in China 50 and India 51 . NCCAH is one of the most common autosomal recessive disorders in humans and affects approximately 1 in 1000 individuals.…”

Section: Population Genetics and Ethnic Diversity Of Cyp21a2 Genotypesmentioning

confidence: 99%

Genetics of Congenital Adrenal Hyperplasia

Hannah‐Shmouni

Chen²,

Merke

2017

Endocrinology and Metabolism Clinics of North America

View full text Add to dashboard Cite

Section: Population Genetics and Ethnic Diversity Of Cyp21a2 Genotypesmentioning

confidence: 99%

Genetics of Congenital Adrenal Hyperplasia

Hannah‐Shmouni

Chen²,

Merke

2017

Endocrinology and Metabolism Clinics of North America

View full text Add to dashboard Cite

“…17OH-P rapidly declined after birth. Since screening for 21-hydroxylase deficiency is carried out in the first days of life (Pang & Clark 1990), we have grouped the data into 2-day intervals for the first 8 postnatal days to allow for better comparison. The concentrations of 17OH-P in unaffected individuals did not show much fluctuation and did not exceed an upper range limit of 22·87 nmol/l during the whole neonatal period.…”

Section: Resultsmentioning

confidence: 99%

“…This is impressively reflected by the considerable variability among cut-off levels of different screening programs (Pang & Clark 1990). It has been demonstrated that the interference of steroid sulfates from the fetal adrenal zone, mainly 17OH-PO sulfate, can lead to false-positive elevated 17OH-P levels (Wong et al 1992).…”

Section: Discussionmentioning

confidence: 99%

See 1 more Smart Citation

Hormonal diagnosis of 21-hydroxylase deficiency in plasma and urine of neonates using benchtop gas chromatography-mass spectrometry

Wudy¹,

Hartmann²,

Homoki³

2000

Journal of Endocrinology

View full text Add to dashboard Cite

We aimed at measuring the first plasma concentrations of 17-hydroxyprogesterone (17OH-P) determined by benchtop isotope dilution/gas chromatography-mass spectrometry (ID/GC-MS) in term neonates with or without 21-hydroxylase deficiency. Plasma samples from normal cord blood specimens (n=30), unaffected neonates (n=38) and neonatal patients with classical 21-hydroxylase deficiency (eight salt-wasters, three simple virilizers) were analyzed. Steroid profiling of random urinary specimens by GC-MS served as a confirmatory test for 21-hydroxylase deficiency. 17OH-P (nmol/l) in cord blood plasma lay between 11·66 and 75·92 (median 24·74). It declined shortly after birth. In the first 8 days of life, the time that screening for 21-hydroxylase deficiency is performed, 17OH-P ranged between undetected levels and an upper limit of 22·87 (median 4·11). Thereafter (days 9-28) its concentrations lay between 2·18 and 20·30 (median 6·22). Except one simple virilizer, all other patients with 21-hydroxylase deficiency had clearly elevated plasma 17OH-P at the time that screening for 21-hydroxylase deficiency would be performed. We suggest ID/GC-MS, which provides the highest specificity in steroid analysis, for checking suspicious concentrations of 17OH-P in neonates and underscore the potential of urinary steroid profiling by GC-MS as a rapid, noninvasive and non-selective confirmatory test for congenital adrenal hyperplasia.

show abstract

“…Newborn screening worldwide of almost 6.5 million babies has demonstrated an overall incidence of 1:15,000 live births for the classic form of 21-OHD (22)(23)(24). The incidence of classic CAH in either homogeneous or heterogeneous general populations is as high as 1 in 7,500 live births (Brazil) (25).…”

Section: Biochemical Features Adrenal Steroidogenesis and Fetal Devementioning

confidence: 99%

Steroid disorders in children: Congenital adrenal hyperplasia and apparent mineralocorticoid excess

New

Wilson

1999

Proc. Natl. Acad. Sci. U.S.A.

147

View full text Add to dashboard Cite

Our research team and laboratories have concentrated on two inherited endocrine disorders, congenital adrenal hyperplasia (CAH) and apparent mineralocorticoid excess, in thier investigations of the pathophysiology of adrenal steroid hormone disorders in children. CAH refers to a family of inherited disorders in which defects occur in one of the enzymatic steps required to synthesize cortisol from cholesterol in the adrenal gland. Because of the impaired cortisol secretion, adrenocorticotropic hormone levels rise due to impairment of a negative feedback system, which results in hyperplasia of the adrenal cortex. The majority of cases is due to 21-hydroxylase deficiency (21-OHD). Owing to the blocked enzymatic step, cortisol precursors accumulate in excess and are converted to potent androgens, which are secreted and cause in utero virilization of the affected female fetus genitalia in the classical form of CAH. A mild form of the 21-OHD, termed nonclassical 21-OHD, is the most common autosomal recessive disorder in humans, and occurs in 1͞27 Ashkenazic Jews. Mutations in the CYP21 gene have been identified that cause both classical and nonclassical CAH. Apparent mineralocorticoid excess is a potentially fatal genetic disorder causing severe juvenile hypertension, pre-and postnatal growth failure, and low to undetectable levels of potassium, renin, and aldosterone. It is caused by autosomal recessive mutations in the HSD11B2 gene, which result in a deficiency of 11␤-hydroxysteroid dehydrogenase type 2. In 1998, we reported a mild form of this disease, which may represent an important cause of low-renin hypertension.

show abstract

Newborn screening, prenatal diagnosis, and prenatal treatment of congenital adrenal hyperplasia due to 21-hydroxylase deficiency

Cited by 55 publications

References 31 publications

Genetics of Congenital Adrenal Hyperplasia

Genetics of Congenital Adrenal Hyperplasia

Hormonal diagnosis of 21-hydroxylase deficiency in plasma and urine of neonates using benchtop gas chromatography-mass spectrometry

Steroid disorders in children: Congenital adrenal hyperplasia and apparent mineralocorticoid excess

Contact Info

Product

Resources

About