Search results for "21-hydroxylase deficiency"
showing 5 items of 5 documents
Visceral adiposity index and metabolic profile in adult patients with congenital adrenal hyperplasia: hydrocortisone versus prednisone treatment.
2013
Background: Patients with Congenital Adrenal Hypeplasia (CAH) due to 21-hydroxylase deficiency need a life-long therapy with glucocorticoids (GCs) and tend to have a cluster of metabolic risk factors, which are consistent with metabolic syndrome (MS). Most frequently used GCs are Hydrocortisone (HC) and Prednisone (P), different for both pharmacodynamic and pharmacokynetic characteristics. Aim: The aim of this study was to evaluate the impact of HC and P on VAI, a new indicator of visceral fat function, and on metabolic profile in CAH patients long term treated with GC. Materials and Methods: Thirty-two patients (22 F, 10 M, 18-46 yrs), among which 16 (11 F, 5 M) treated with HC (dose 10-45…
Refractory Acne and 21-Hydroxylase Deficiency in a Selected Group of Female Patients.
2009
<i>Background:</i> Excessive androgen production, suspected in women when acne is accompanied by hirsutism and menstrual irregularities, may be due to congenital adrenal hyperplasia. This inherited disorder of cortisol biosynthesis is caused in more than 90–95% of all cases by 21-hydroxylase deficiency (21-OHD). The steroid 21-hydroxylase gene <i>(CYP21)</i> has a high degree of variability. <i>Objective:</i> This study was conducted to evaluate <i>CYP21 </i>gene mutations in a selected group of women with papulopustular and comedonal acne refractory to treatment, irregular menses and hirsutism. <i>Methods:</i> 30 out of 61 women e…
A large view of CYP21 locus among Sicilians and other Populations: identification of a novel CYP21A2 variant in Sicily.
2011
Background. Several mutations in CYP21 locus cause 21-Hydroxylase Deficiency (21-OHD). The most common mutations are widespread among the different geographic areas and their frequencies have been also reported to differ among certain populations. Aim. To obtain a large view on the frequencies of the most common mutations in the CYP21 locus, in Sicily, in Mediterranean and in other major geographic areas in the worldwide. Subjects and Methods. 308 unrelated CYP21A2 alleles leading 21-OHD in Sicily were genetically typed and compared with other series previously reported in Sicily and in surrounding regions. An analysis of the frequencies of the different geographic areas was also carried ou…
Reproductive Dysfunction in Classical and Nonclassical Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency
2021
Patients with congenital adrenal hyperplasia (CAH) both with severe (classical CAH) and mild (nonclassical NCAH) forms exhibit a wide spectrum of reproductive dysfunction. In this review, only CAH cases with 21-hydroxylase deficiency (21-OHd) will be discussed, as they represent almost all of the patients in reproductive clinical settings.
Ovarian and Adrenal Hyperandrogenism
2007
Because in normal women androgens are secreted in almost equal quantities by both adrenals and ovaries, for many years many studies have tried to distinguish the source of androgen excess. However, in the last 10-15 years, the diagnoses of ovarian or adrenal hyperandrogenism have almost disappeared. This is due to the lack of specificity of dynamic tests as well as to the emphasis given on clinical information and ovarian sonography for the diagnosis of hyperandrogenic syndromes. However, determination of the source of increased androgens may still be useful for improving the classification and the understanding of androgen excess disorders. The aim of this review is to examine the source o…