Detection of late-onset adrenal hyperplasia in girls with peripubertal virilization

Sándor, János; Gács, G; Keszei, K.; Lang, Katharina; Örley, J.; Petheö, I.; Ságodi, László

doi:10.1530/acta.0.1150413

Cited by 8 publications

(3 citation statements)

References 13 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…17-Hydroxyprogesterone (17-OHP) was measured by RIA, as described earlier (17). Briefly, steroids were extracted from the serum with a diethyl ether:ethyl acetate mixture.…”

Section: Methodsmentioning

confidence: 99%

Potential advantage of N363S glucocorticoid receptor polymorphism in 21-hydroxylase deficiency

Luczay¹,

Török²,

Ferenczi³

et al. 2006

eur j endocrinol

View full text Add to dashboard Cite

Objective: Congenital adrenal hyperplasia (CAH) shows a range of severity which is explained in part by the different mutations of the CYP21 gene. To better understand the incomplete concordance between genotype and phenotype in CAH the role of the sensitizing N363S polymorphism of the glucocorticoid receptor (GR) was examined in CAH patients. Design: CAH patients were screened for N363S. Laboratory findings and clinical characteristics of carriers and non-carriers were analyzed retrospectively. Methods: The CYP21 gene of 200 CAH patients was analyzed by allele-specific PCR. The GR gene was tested for N363S by PCR followed by restriction fragment length polymorphism. Antropometric data (height, weight), degree of intrauterine virilization, hormone concentrations (17-OH-progesterone, dehydroepiandrosterone (DHEA), aldosterone, testosterone, plasma renin activity), substitution doses and clinical course were analyzed. Results: The carrier frequency of N363S in CAH patients was equivalent to that of the general Hungarian population (6% vs 7.8%). Interestingly, none of the non-classical CAH (NC-CAH) patients were carriers of the polymorphism. Carrier girls had milder genital virilization than mutation-matched non-carrier controls. There was no significant difference between the carriers and non-carriers in either the substitution doses, the hormonal, or the auxiological parameters. Conclusions: The association of sensitizing the GR variant with impaired cortisol production in CAH might be compensatory in mild NC-CAH and may prevent severe intrauterine virilization in classical form. Although the exact role of N363S in extrauterine life should be further investigated, the consideration of certain genetic polymorphisms of CAH patients may lead to better, individualized therapeutic regimes.European Journal of Endocrinology 154 859-864

show abstract

“…17-Hydroxyprogesterone (17-OHP) was measured by RIA, as described earlier (17). Briefly, steroids were extracted from the serum with a diethyl ether:ethyl acetate mixture.…”

Section: Methodsmentioning

confidence: 99%

Potential advantage of N363S glucocorticoid receptor polymorphism in 21-hydroxylase deficiency

Luczay¹,

Török²,

Ferenczi³

et al. 2006

eur j endocrinol

View full text Add to dashboard Cite

show abstract

“…To measure the serum concentration of 17-OHP, 30 l of serum plus 200 l of water was extracted with 2.0 ml of diethyl ether: ethyl acetate mixture (90 : 10, v/v %). The dried residue of the extract was analysed by a non-chromatographic RIA as described earlier (Sólyom et al, 1987). 11b-hydroxylase deficiency was excluded in suspected cases based on the 11-deoxycortisol concentrations.…”

Section: Steroid Analysismentioning

confidence: 99%

Limited Value of Serum Steroid Measurements in Identification of Mild Form of 21-Hydroxylase Deficiency

Török¹,

Halász²,

Garami³

et al. 2003

Exp Clin Endocrinol Diabetes

Self Cite

View full text Add to dashboard Cite

There are patients with inappropriate peripubertal virilization who have slightly elevated 17-OHP concentrations. In this subgroup of patients more sensitive and specific methods are needed to establish the diagnosis of 21-OHD. Therefore we suggest performing an ACTH stimulation test in patients with a morning 17-OHP level above 3.5 ng/ml. Furthermore, urinary steroid profile and/or CYP21 gene analysis are needed in patients with a stimulated 17-OHP value between 10 and 30 ng/ml. These tests will distinguish between patients with non-classical 21-OHD and patients with other disorders.

show abstract

“…20 Therefore, it is still the follicular morning assay of basal 17-HP that should be included in the first screening investigation of all hyperandrogenic women, including those with premature pubarche. 21…”

Section: The Androgen Plasma Levelsmentioning

confidence: 99%

Nonclassic 21-Hydroxylase Deficiency

Dewailly¹

2002

Semin Reprod Med

View full text Add to dashboard Cite

The nonclassic form of adrenal hyperplasia (NCAH) has been increasingly recognized in adolescent or adult hyperandrogenic patients. It is now widely accepted that neither the clinical presentation nor the androgen plasma levels can be used for the screening or diagnosis of NCAH in hyperandrogenic women, especially those presenting with a phenotype like that in polycystic ovary syndrome. Therefore, the measurement of a follicular morning level of serum 17-hydroxyprogesterone (17-HP) should be included in the initial investigation of all hyperandrogenic women, including those with premature pubarche. Levels of 17-HP lower than 2 ng/mL (6.0 nmol/L) and greater than 4 ng/mL (12.0 nmol/L) have good predictive negative and positive values, respectively. The adrenocorticotropic hormone test is useful only when the morning follicular unsuppressed 17-HP level falls between 2 and 4 ng/mL (6 to 12 nmol/L). Adrenal insufficiency and adrenal hyperplasia are more theoretical than real complications of NCAH. On the other hand, the polycystic ovary syndrome and infertility are frequently associated with NCAH. For the treatment of hyperandrogenism, the conventional treatment by glucocorticoid therapy is challenged by cyproterone acetate, but it is still indicated when patients wish a pregnancy. It can be questioned whether the low risk of virilized female newborns in untreated women with NCAH justifies prenatal diagnosis and treatment.

show abstract

Detection of late-onset adrenal hyperplasia in girls with peripubertal virilization

Cited by 8 publications

References 13 publications

Potential advantage of N363S glucocorticoid receptor polymorphism in 21-hydroxylase deficiency

Potential advantage of N363S glucocorticoid receptor polymorphism in 21-hydroxylase deficiency

Limited Value of Serum Steroid Measurements in Identification of Mild Form of 21-Hydroxylase Deficiency

Nonclassic 21-Hydroxylase Deficiency

Contact Info

Product

Resources

About