Steroid 11β- hydroxylase deficiency congenital adrenal hyperplasia

Nimkarn, Saroj; New, Maria I.

doi:10.1016/j.tem.2008.01.002

Cited by 173 publications

(128 citation statements)

References 36 publications

Supporting

Mentioning

115

Contrasting

Unclassified

Order By: Relevance

“…Generally in CAH patients, low cortisol levels increase ACTH production, flooding the adrenal steroidogenic machinery with upstream precursors (4). However in this patient cortisol levels were persistently elevated with non-suppressed levels following dexamethasone.…”

Section: Discussionmentioning

confidence: 68%

“…Most females with the severe or classical form of CAH are diagnosed in the neonatal period after presenting with ambiguous genitalia at birth or in early childhood. Occasionally, females are so severely virilized at birth that their external genitalia are male looking, with a penile urethra and fused labioscrotal folds (4). This leads to errors in gender assignment as in our patient.…”

Section: Discussionmentioning

confidence: 76%

“…Patients undergo rapid somatic growth with premature epiphyseal closure resulting in short adult stature. Elevated metabolites with mineralocorticoid activity, such as deoxycorticosterone and its derivatives, cause hypertension in about two thirds of patients (4,6).…”

Section: Discussionmentioning

confidence: 99%

“…Reduced cortisol feedback gives rise to an increase in adrenocorticotropin Case report (ACTH) secretion, which in turn leads to overproduction of precursors proximal to the enzyme defect. These precursors serve as substrates for the unimpeded androgen pathways, so that adrenal androgen secretion is increased (4). Commonest form of CAH is due to 21-hydroxylase deficiency.…”

Section: Introductionmentioning

confidence: 99%

See 3 more Smart Citations

A young patient with severe virilization, hypertension and bilateral adrenal hyperplasia

Abhayaratna

Somasundaram

2014

Sri Lanka J. Diabetes Endocrinol. Metab.

View full text Add to dashboard Cite

A young patient with severe virilization, hypertension and bilateral adrenal hyperplasia A young patient with severe virilization, hypertension and bilateral adrenal hyperplasia AbstractWe describe an unusual late presentation of 11β-hydroxylase deficiency in a severely virilized, 23 year old patient, who presented with intracerebral haemorrhage, hypertension and short stature. The patient was raised as a male but had hypospadias, absent testicles from birth and had precocious puberty during his childhood. Plasma testosterone level was elevated (16 ng/mL) with suppressed FSH and LH levels (< 1 U/L). Basal 17-hydoxyprogesterone was markedly elevated (>19.2 ng/mL-ref range: 0.5-2.1 ng/mL). CT scan abdomen showed bilateral marked adrenal hyperplasia with mullerian structures and karyotyping showed 46 XX with negative sex-determining region Y (SRY) test. A clinical diagnosis of 11β-hydroxylase deficiency was made in view of hypertension with severe virilization in a 46 XX individual. The patient was managed with antihypertensive drugs, monitoring of serum testosterone and 17-hydroxyprogesterone levels since she the patient decided to remain as a male.

show abstract

Section: Discussionmentioning

confidence: 68%

Section: Discussionmentioning

confidence: 76%

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

See 2 more Smart Citations

A young patient with severe virilization, hypertension and bilateral adrenal hyperplasia

Abhayaratna

Somasundaram

2014

Sri Lanka J. Diabetes Endocrinol. Metab.

View full text Add to dashboard Cite

show abstract

“…Most of known mutations are clustered in exons 2, 6, 7, 8 [4,5]. In our current study, we reported a case of congenital adrenal hyperplasia due to 11β-hydroxylase deficiency and performed mutation analysis of CYP11B1 gene for the family of the patient.…”

Section: Construction Of Plasmids and Site-directed Mutagenesismentioning

confidence: 89%

The combination of a novel 2 bp deletion mutation and p.D63H in <i>CYP11B1</i> cause congenital adrenal hyperplasia due to steroid 11β-hydroxylase deficiency

et al. 2016

View full text Add to dashboard Cite

Characterization of the CYP21 gene 5? flanking region in patients affected by 21-OH deficiency

et al. 2000

View full text Add to dashboard Cite

In order to test the hypothesis that mutations in the 5′ non‐coding region of CYP21 gene could contribute to the various spectrum of disease presentation due to 21‐OH deficiency, the 400bp nucleotide sequence upstream of the ATG codon of CYP21 gene has been characterized in 28 CAH patients who have previously been genotyped by screening for the ten most frequent CYP21 mutations. Six specific sequence variations (–4C→T, –73C→T, –295T→C, –294A→C, –283A→G, –281T→G) have been identified in this region of CYP21 gene in 3 out of 28 21‐OH deficient patients for whom the coding region mutations have been previously identified. Three of these mutations, –295T→C, –294A→C, –283A→G, are apparently generated by a gene‐conversion event, thus giving first evidence that this mechanism also applies to the 5′ untranslated region of CYP21 gene in 21‐OH deficiency. Four other sequence changes, identified at nucleotide position –279, –331, –350 and –353, could be referred to as normal since they are present also in healthy subjects. It may not be excluded that some of the newly‐identified single nucleotide changes in the regulatory region could have a modulatory effect on the CYP21 gene transcriptional activity thus affecting the clinical outcome. Hum Mutat 15:481, 2000. © 2000 Wiley‐Liss, Inc.

show abstract

Steroid 11β- hydroxylase deficiency congenital adrenal hyperplasia

Cited by 173 publications

References 36 publications

A young patient with severe virilization, hypertension and bilateral adrenal hyperplasia

A young patient with severe virilization, hypertension and bilateral adrenal hyperplasia

The combination of a novel 2 bp deletion mutation and p.D63H in <i>CYP11B1</i> cause congenital adrenal hyperplasia due to steroid 11β-hydroxylase deficiency

Characterization of the CYP21 gene 5? flanking region in patients affected by 21-OH deficiency

Contact Info

Product

Resources

About

Steroid 11β- hydroxylase deficiency congenital adrenal hyperplasia

Cited by 173 publications

References 36 publications

A young patient with severe virilization, hypertension and bilateral adrenal hyperplasia

A young patient with severe virilization, hypertension and bilateral adrenal hyperplasia

The combination of a novel 2 bp deletion mutation and p.D63H in <i>CYP11B1</i> cause congenital adrenal hyperplasia due to steroid 11&beta;-hydroxylase deficiency

Characterization of the CYP21 gene 5? flanking region in patients affected by 21-OH deficiency

Contact Info

Product

Resources

About

The combination of a novel 2 bp deletion mutation and p.D63H in <i>CYP11B1</i> cause congenital adrenal hyperplasia due to steroid 11β-hydroxylase deficiency