Defects in the HSD11 gene encoding 11[beta]-hydroxysteriod dehydrogenase are not found in patients with apparent mineralocorticoid excess or 11-oxoreductase deficiency

Journal Article · Wed Sep 01 00:00:00 EDT 1993 · Journal of Clinical Endocrinology and Metabolism; (United States)

DOI:https://doi.org/10.1210/jcem.77.3.8370690· OSTI ID:5044107

Nikkila, H; White, P C ^[1]; Tannin, G M ^[2]; New, M I; Taylor, N F ^[3]; Kalaitzoglou, G; Monder, C ^[4]

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1. Cornell Univ. Medical College, New York, NY (United States)
2. Rainbow Babies and Children's Hospital, Cleveland, OH (United States)
3. King's College School of Medicine and Dentistry, London (United Kingdom)
4. Population Council, New York, NY (United States)

The syndrome of apparent mineralocorticoid excess (AME) is a form of low renin hypertension that is thought to be caused by congenital deficiency of 11[beta]-hydroxysteroid dehydrogenase (11HSD) activity. This enzyme converts cortisol to cortisone and apparently prevents cortisol from acting as a ligand for the mineralocorticoid (type I) receptor. It also catalyzes the reverse oxoreductase (cortisone to cortisol) reaction. Four patients with AME and the parents of the first patient described (now deceased) were analyzed for mutations in the cloned HSD11 gene encoding an 11HSD enzyme. A patient with suspected cortisone reductase deficiency was also studied. No gross deletions or rearrangements in the HSD11 gene were apparent on hybridizations of blot of genomic DNA. Direct sequencing of polymerase chain reaction-amplified fragments corresponding to the coding sequences, intronexon junctions, and proximal untranslated regions of this gene revealed no mutations. AME may involve mutations in a gene for another enzyme with 11HSD activity or perhaps another cortisol metabolizing enzyme. 48 refs., 2 figs., 2 tabs.

• OSTI ID: 5044107
• Journal Information: Journal of Clinical Endocrinology and Metabolism; (United States), Vol. 77:3; ISSN 0021-972X
• Country of Publication: United States
• Language: English

Related Subjects

59 BASIC BIOLOGICAL SCIENCES
CORTISONE
METABOLIC DISEASES
HYPERTENSION
GENETICS
OXIDOREDUCTASES
GENE MUTATIONS
DNA HYBRIDIZATION
DNA SEQUENCING
ADRENAL HORMONES
BIOLOGY
CARDIOVASCULAR DISEASES
CORTICOSTEROIDS
DISEASES
ENZYMES
GLUCOCORTICOIDS
HORMONES
HYBRIDIZATION
HYDROXY COMPOUNDS
KETONES
MUTATIONS
ORGANIC COMPOUNDS
PREGNANES
PROTEINS
STEROID HORMONES
STEROIDS
STRUCTURAL CHEMICAL ANALYSIS
SYMPTOMS
VASCULAR DISEASES
550400* - Genetics
550200 - Biochemistry