Altered corticosteroid biosynthesis in essential hypertension: A digenic phenomenon

Davies, Eleanor; MacKenzie, Scott; Freel, E. Marie; Alvarez-Madrazo, Samantha; Fraser, Robert; Connell, John

doi:10.1016/j.mce.2008.09.014

Cited by 7 publications

(1 citation statement)

References 72 publications

(82 reference statements)

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Blood tests revealed a serum potassium concentration of 1 mEq/L (3 -5 mEq/L), serum sodium of 158 mEq/L (133 -145 mEq/L), serum adrenocorticotrophic hormone (ACTH) was > 1000 pg/mL ( < 50 pg/mL), serum testosterone of 12 nmol/L (adult range), 17-hydroxy progesterone (17-OHP) was > 12 µ g/L ( < 5 µ g/L), 11-de-oxycorticosterone was 12 nmol/L (0.06 -1.03 nmol/L) and his bone age (Tanner Whitehouse 2 method) was 11 years (chronological age 5 years). In view of his pseudoprecocious puberty (testicular volume 2 mL), hypertension, hyperpigmentation, raised 17-OHP, ACTH, androgens and 11-de-oxycorticosterone, a fi nal diagnosis of congenital adrenal hyperplasia due to 11 β -hydroxylase defi ciency was made, and child was treated with intravenous hydrocortisone and potassium (1,2). His weakness completely recovered in the next 48 h and he was discharged on oral hydrocortisone (10 mg/m 2 /day) (3).…”

mentioning

confidence: 99%

Hypokalaemic paralysis in a 15-year-old boy with 11β-hydroxylase deficiency

Rustagi

Khadilkar²,

Khadilkar³

2011

Journal of Pediatric Endocrinology and Metabolism

View full text Add to dashboard Cite

A 15-year-old male child, born of a third degree consanguineous marriage presented with an acute onset progressive weakness of both lower and upper limbs without any sensory, bowel or bladder involvement. The patient had been admitted with a similar episode at the age of 5 years. Examination at the time of fi rst hospitalisation had revealed that the child was 120 cm (2.2 SD) tall, weighed 21 kg (1.0 SD) and his blood pressure was 240/120 ( > 95th percentile). He had hyperpigmentation (as compared with the other family members), signs of virilisation, his voice had broken and he was in pseudoprecocious puberty with Tanner staging axillary hair 2, pubic hair 2, genital 5 and testicular volume 2 mL each. Motor system examination revealed proximal muscle power grade 2/5 (Medical Research Council grading) in both the lower and the upper limbs with intact sensations and grade 1 deep tendon refl exes. Blood tests revealed a serum potassium concentration of 1 mEq/L (3 -5 mEq/L), serum sodium of 158 mEq/L (133 -145 mEq/L), serum adrenocorticotrophic hormone (ACTH) was > 1000 pg/mL ( < 50 pg/mL), serum testosterone of 12 nmol/L (adult range), 17-hydroxy progesterone (17-OHP) was > 12 µ g/L ( < 5 µ g/L), 11-de-oxycorticosterone was 12 nmol/L (0.06 -1.03 nmol/L) and his bone age (Tanner Whitehouse 2 method) was 11 years (chronological age 5 years). In view of his pseudoprecocious puberty (testicular volume 2 mL), hypertension, hyperpigmentation, raised 17-OHP, ACTH, androgens and 11-de-oxycorticosterone, a fi nal diagnosis of congenital adrenal hyperplasia due to 11 β -hydroxylase defi ciency was made, and child was treated with intravenous hydrocortisone and potassium (1, 2). His weakness completely recovered in the next 48 h and he was discharged on oral hydrocortisone (10 mg/m 2 /day) (3).After 14 years of age, he was non-compliant, had become very rebellious and had stopped all medication. The patient had another attack of weakness in all four extremities very similar to that which had occurred at 5 years of age. On this admission patient was 161 cm (0.1 SD) tall and weighed 44 kg ( -0.5 SD). Patient also had bradycardia (pulse rate 54/min) with an irregular bounding pulse, respiratory rate of 22/min, blood pressure in the supine position of 180/110 mm Hg ( > 95th percentile). Generalised hyperpigmentation was noticed which was more pronounced on the knuckles, nipples, lips, axilla and groin (Figure 1 A, B). On performing Tanner staging he was found to have adult Tanner stage 5.The proximal muscle power was grade 2/5 in both the lower and the upper limbs with weakness of the neck Figure 1 (A, B) Generalised hyperpigmentation which was more pronounced on the knuckles, nipples, lips and axilla. (C) Electrocardiogram showing bradycardia, presence of U waves, a prolonged QT interval (0.64 s) and left ventricular hypertrophy.Brought to you by |

show abstract

mentioning

confidence: 99%

Hypokalaemic paralysis in a 15-year-old boy with 11β-hydroxylase deficiency

Rustagi

Khadilkar²,

Khadilkar³

2011

Journal of Pediatric Endocrinology and Metabolism

View full text Add to dashboard Cite

show abstract

Licorice and 11β-Hydroxysteroid Dehydrogenase

Armanini¹,

Sabbadin²

2019

Encyclopedia of Endocrine Diseases

View full text Add to dashboard Cite

Genetics of hypertension: From experimental animals to humans

Delles

McBride

Graham

et al. 2010

Biochimica et Biophysica Acta (BBA) - Molecular Basis of Diseas

View full text Add to dashboard Cite

Essential hypertension affects 20 to 30% of the population worldwide and contributes significantly to cardiovascular mortality and morbidity. Heridability of blood pressure is around 15 to 40% but there are also substantial environmental factors affecting blood pressure variability. It is assumed that blood pressure is under the control of a large number of genes each of which has only relatively mild effects. It has therefore been difficult to discover the genes that contribute to blood pressure variation using traditional approaches including candidate gene studies and linkage studies. Animal models of hypertension, particularly in the rat, have led to the discovery of quantitative trait loci harbouring one or several hypertension related genes, but translation of these findings into human essential hypertension remains challenging. Recent development of genotyping technology made large scale genome-wide association studies possible. This approach and the study of monogenic forms of hypertension has led to the discovery of novel and robust candidate genes for human essential hypertension, many of which require functional analysis in experimental models.

show abstract

Altered corticosteroid biosynthesis in essential hypertension: A digenic phenomenon

Abstract: International audienc

Cited by 7 publications

References 72 publications

Hypokalaemic paralysis in a 15-year-old boy with 11β-hydroxylase deficiency

Hypokalaemic paralysis in a 15-year-old boy with 11β-hydroxylase deficiency

Licorice and 11β-Hydroxysteroid Dehydrogenase

Genetics of hypertension: From experimental animals to humans

Contact Info

Product

Resources

About