Virilizing adrenal tumour mimicking congenital adrenal hyperplasia with P450c11 (11β-hydroxylase) deficiency

Werder, E A; Voutilainen, Raimo; Zachmann, M.

doi:10.1007/bf01983403

Cited by 4 publications

(1 citation statement)

References 26 publications

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“…Recently, a unique case of virilising adrenal adenoma in a 5-year-old girl, showing the urinary and plasma steroid characteristics for CAH due to 11 [3-hydroxylase deficiency, was described. Addi tional molecular studies have been performed to exclude CAH [37],…”

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confidence: 99%

Heterogeneity of Urinary Steroid Profiles in Children with Adrenocortical Tumors

Małunowicz¹,

Ginalska-Malinowska²,

Romer

et al. 1995

Horm Res

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The excretory patterns of urinary steroids determined by capillary gas chromatography in 11 children (aged 0.8-16.5 years) with adrenocortical tumors were established. In 8 patients the predominant clinical feature was virilization, in 3 others, Cushing’s syndrome. In 5 patients (3 carcinoma, 2 adenoma) very high excretion of 3β-hydroxy-5-ene steroids was observed. In 2 others (adenomas) only moderately elevated excretion of 11β-hydroxyandrosterone was found. In 1 patient (adenoma) pregnanediol dominated in the steroid profile, accompanied by moderately elevated 3β-hydroxy-5-ene steroids. Out of 3 Cushingoid patients (1 carcinoma, 2 adenomas), 1 presented an atypical urinary steroid pattern for hypercortisolemia, without 5α-reductase and 11β-hydroxysteroid dehydrogenase deficiencies. Neither the urinary steroid pattern nor tumor size alone were reliable indicators of tumor malignancy, as evaluated by a pathological examination and subsequent metastasis-free survival.

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mentioning

confidence: 99%

Heterogeneity of Urinary Steroid Profiles in Children with Adrenocortical Tumors

Małunowicz¹,

Ginalska-Malinowska²,

Romer

et al. 1995

Horm Res

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Clinical perspectives in congenital adrenal hyperplasia due to 11β-hydroxylase deficiency

2016

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Congenital adrenal hyperplasia due to 11 beta-hydroxylase deficiency is a rare autosomal recessive genetic disorder. It is caused by reduced or absent activity of 11β-hydroxylase (CYP11B1) enzyme and the resultant defects in adrenal steroidogenesis. The most common clinical features of 11 beta-hydroxylase deficiency are ambiguous genitalia, accelerated skeletal maturation and resultant short stature, peripheral precocious puberty and hyporeninemic hypokalemic hypertension. The biochemical diagnosis is based on raised serum 11-deoxycortisol and 11-deoxycorticosterone levels together with increased adrenal androgens. More than 100 mutations in CYP11B1 gene have been reported to date. The level of in-vivo activity of CYP11B1 relates to the degree of severity of 11 beta-hydroxylase deficiency. Clinical management of 11 beta-hydroxylase deficiency can pose a challenge to maintain adequate glucocorticoid dosing to suppress adrenal androgen excess while avoiding glucocorticoid-induced side effects. The long-term outcomes of clinical and surgical management are not well studied. This review article aims to collate the current available data about 11 beta-hydroxylase deficiency and its management.

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11β-Hydroxylase Deficiency

Bulsari¹,

Falhammar²

2019

Encyclopedia of Endocrine Diseases

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Virilizing adrenal tumour mimicking congenital adrenal hyperplasia with P450c11 (11β-hydroxylase) deficiency

Cited by 4 publications

References 26 publications

Heterogeneity of Urinary Steroid Profiles in Children with Adrenocortical Tumors

Heterogeneity of Urinary Steroid Profiles in Children with Adrenocortical Tumors

Clinical perspectives in congenital adrenal hyperplasia due to 11β-hydroxylase deficiency

11β-Hydroxylase Deficiency

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