A simple, rapid, non-radioactive method for detecting homozygous deletions/conversions of the steroid 21-hydroxylase gene is described. In our experience this method will be useful for first trimester prenatal diagnosis of congenital adrenal hyperplasia in 17% of families of a child with the salt losing form. This test includes an internal control to monitor the success of amplification.

21-Hydroxylase

10.1136/jmg.27.11.676

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Citations (12)

Deoxycorticosterone, 11 β‐hydroxylase and the adrenal cortex

Clinical Endocrinology (1993)

Helen Spoudeas Jeremy D. Slater G Rumsby John W. Honour C G D Brook

We report a child in whom DOC excess secondary to congenital adrenal hyperplasia (CAH, 11 beta-hydroxylase deficiency) caused malignant hypertension. Clinical and metabolic control could be achieved only by replacement of both glucocorticoid and mineralocorticoid, thus confirming in clinical practice the hypothesis that DOC is produced from both the zonae fasciculata and glomerulosa of the adrenal cortex under the independent control of the ACTH and renin-angiotensin systems respectively.

10.1111/j.1365-2265.1993.tb01782.x

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Citations (9)

Treatment of Achondroplasia with Growth Hormone: Six Years of Experience

Pediatric Research (1999)

Uma Ramaswami G Rumsby Helen Spoudeas Peter C. Hindmarsh C G D Brook

Achondroplasia

Sitting

10.1203/00006450-199910000-00012

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Citations (35)

Low incidence of ras oncogene activation in human squamous cell carcinomas

British Journal of Cancer (1990)

G Rumsby RL Carter B.A. Gusterson

Epidermoid carcinoma

Squamous carcinoma

10.1038/bjc.1990.80

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Citations (98)

The Primary Hyperoxalurias: Molecular and Clinical Insights

Elsevier eBooks (2005)

Carla G. Monico G Rumsby Dawn S. Milliner

Primary (astronomy)

10.1016/b978-1-4160-0252-9.50016-1

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Citations (0)

Deletion ofthesteroid 21-hydroxylase and complement C4genesincongenital adrenal hyperplasia

G Rumsby M C CARROLLt R R Porteri David Grant M. Hjelm

21-Hydroxylase

Complement

Source

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Citations (0)

The use of phenylpropionic acid as a loading test for medium‐chain acyl‐CoA dehydrogenase deficiency

Journal of Inherited Metabolic Disease (1988)

J. W. T. Seakins G Rumsby

Sick child

Clinical biochemistry

10.1007/bf01804241

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Citations (30)

Prenatal diagnosis of congenital adrenal hyperplasia by direct detection of mutations in the steroid 21‐hydroxylase gene

Clinical Endocrinology (1993)

G Rumsby John W. Honour C. H. Rodeck

Summary OBJECTIVE Our aim was to develop a rapid and accurate method for the prenatal diagnosis of congenital adrenal hyperplasia using the polymerase chain reaction to detect mutations in the steroid 21‐hydroxylase gene. These procedures will help to minimize exposure to dexametha‐sone treatment of either affected males or unaffected females. DESIGN AND PATIENTS Chorionic villus biopsy samples were obtained between 10 and 11 weeks gestation from three females carrying fetuses at risk of steroid 21‐hydroxylase deficiency. Blood samples were taken from parents and the index case in each family. MEASUREMENTS Three common mutations in the 21‐hydroxylase B gene were detected following DNA amplification. RESULTS Prenatal diagnosis of congenital adrenal hyperplasia was successful in all three cases. One affected female was treated with dexamethasone to term. In the other two cases, one affected male and one carrier also male, dexamethasone was withdrawn at an early stage. CONCLUSIONS First trimester prenatal diagnosis of steroid 21‐hydroxylase deficiency was achieved in three pregnancies with a strategy based on direct detection of gene mutations.

21-Hydroxylase

Chorionic villus sampling

Chorionic villi

10.1111/j.1365-2265.1993.tb00524.x

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Citations (22)

Molecular characterization and clinical use of a polymorphic tandem repeat in an intron of the human alanine: Glyoxylate aminotransferase gene

Human Genetics (1994)

Christopher J. Danpure Graeme M. Birdsey G Rumsby Michael J. Lumb P. Edward Purdue

10.1007/bf02272842

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Citations (35)