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ea0029p63 | Adrenal cortex | ICEECE2012

Genetic, anthropometric and metabolic features of adult norwegian patients with 21-hydroxylase deficiency

Nermoen I. , Bronstad I. , Fougner K. , Svartberg J. , Oksnes M. , Husebye E. , Lovas K.

Objective: The aim of this study was to determine genetic, anthropometric and metabolic features in an unselected population of adult Norwegian patients with classical 21-hydroxylase deficiency (21OHD).Patients,Methods, and design: Sixty-four 21OHD-patients participated (23 men, 41 women; mean age 40.3 (range 1972) in a cross-sectional study including DNA sequencing of the CYP21A1P-CYP21A2 locus, anthropometric measurements i...

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ea0026p34 | Adrenal cortex | ECE2011

Norwegian patients with congenital adrenal hyperplasia have a high frequency of adrenal myelolipomas and adrenal hypoplasia, and testicular adrenal rest tumours was only detected in men with the saltwasting form

Nermoen I N , Rorvik J R , Holmedal S H H , Hykkerud D L H , Fougner K J , Svartberg J S , Husebye E S H , Lovas K L

Background: Increased frequencies of adrenal tumours and testicular adrenal rest tumours (TART) have been reported in congenital adrenal hyperplasia (CAH).Objective: To investigate the frequency of adrenal abnormalities and TART in an unselected adult population of CAH due to 21-hydroxylase deficiency (21-OH) and whether adrenal and testicular pathology correlate with disease categories, current hormone levels and treatment.Patient...

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Endocrine Abstracts

Genetic, anthropometric and metabolic features of adult norwegian patients with 21-hydroxylase deficiency

Norwegian patients with congenital adrenal hyperplasia have a high frequency of adrenal myelolipomas and adrenal hypoplasia, and testicular adrenal rest tumours was only detected in men with the saltwasting form

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