Steroid biomarkers for identifying non-classic adrenal hyperplasia due to 21-hydroxylase deficiency in a population of PCOS with suspicious levels of 17OH-progesterone

Oriolo, Claudia; Fanelli, Flaminia; Castelli, Silvia; Mezzullo, Marco; Altieri, Paola; Corzani, Francesca; Pelusi, Carla; Repaci, Andrea; Dalmazi, Guido Di; Vicennati, Valentina; Baldazzi, Lilia; Menabò, Soara; Dormi, Ada; Nardi, Elena; Brillanti, Giorgia; Pasquali, Renato; Pagotto, Uberto; Gambineri, Alessandra

doi:10.1007/s40618-020-01235-3

Cited by 13 publications

(8 citation statements)

References 39 publications

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“…These studies were carried out in Europe, the United States of America, and Russia. Three studies were carried out in Greece ( 15 , 30 , 31 ), three in the United States of America ( 18 , 32 , 33 ), two in Italy ( 34 , 35 ), two in Brazil ( 36 , 37 ), two in France ( 38 , 39 ), one in Turkey ( 21 ), one in Russia ( 40 ) and one in Israel ( 41 ). CYP21A2 mutation analysis and basal and/or stimulated 17-OHP measurements were available in all study subjects.…”

Section: Resultsmentioning

confidence: 99%

17-Hydroxyprogesterone Response to Standard Dose Synacthen Stimulation Test in CYP21A2 Heterozygous Carriers and Non-carriers in Symptomatic and Asymptomatic Groups: Meta-analyses

Polat¹,

Arslan²

2022

Jcrpe

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Objective: Standard dose synacthen stimulation test (SDSST) is a gold standard screening test for evaluating adrenal gland function. Despite studies using SDSST to identify heterozygosity in CYP21A2 , the reliability of the test for this purpose is still controversial. Therefore, the meta-analyses were performed to determine the differences in 17-hydroxyprogesterone (17-OHP) responses to standard dose (0.25 mg) SDSST in the diagnosis of CYP21A2 heterozygous individuals, with or without clinical signs of androgen excess disorders. Methods: PubMed and MEDLINE databases were searched. A total of 1215 subjects (heterozygous carriers n=669, mutation-free controls n=546) were included in the meta-analyses. Results: Basal 17-OHP median/mean levels were 4.156 (3.05-10.5)/5.241 (±2.59) nmol/L and 3.90 (2.20-9.74)/4.67 (±2.62) nmol/L in symptomatic heterozygous carriers and symptomatic mutation-free controls, respectively. Stimulated 17-OHP median/mean levels were 17.29 (14.22-37.2)/19.51 (±7.63) nmol/L and 9.27 (7.32-15.9)/10.77 (±3.48) nmol/L in symptomatic heterozygous carriers and symptomatic mutation-free controls, respectively. Basal 17-OHP median/mean levels were 3.21 (2.64-4.78)/3.33 (±0.84) nmol/L and 3.12 (1.82-3.6)/2.83 (±0.71) nmol/L in asymptomatic heterozygous carriers and asymptomatic mutation-free healthy controls, respectively. Stimulated 17-OHP median/mean levels were 14.16 (12.73-16.37)/14.16 (±1.37) nmol/L and 6.26 (4.9-8.23)/6.48 (±1.2) nmol/L in asymptomatic heterozygous carriers and asymptomatic mutation-free healthy controls, respectively. The cut-off levels for stimulated 17-OHP were 10.48 nmol/L and 13.48 nmol/L for asymptomatic heterozygous and symptomatic heterozygous, respectively. Conclusion: The meta-analyses support the idea that stimulated 17-OHP level has potential for use in identifying CYP21A2 carriers. Besides, considering differences in the basal and stimulated 17-OHP levels in symptomatic heterozygous individuals compared to those who were asymptomatic heterozygous could increase the accuracy of the test.

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Section: Resultsmentioning

confidence: 99%

17-Hydroxyprogesterone Response to Standard Dose Synacthen Stimulation Test in CYP21A2 Heterozygous Carriers and Non-carriers in Symptomatic and Asymptomatic Groups: Meta-analyses

Polat¹,

Arslan²

2022

Jcrpe

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“…In contrast to classic 21OHD patients in which cortisol production is significantly impaired, most patients with non-classic 21OHD have basal cortisol levels within normal reference ranges when measured by immunoassay ( 7 – 9 , 18 ). It should, however, be noticed that immunoassays are not free of cross-reactivity to precursor steroids that are generally increased in (NC)CAH patients leading to a possible overestimation of the cortisol concentration.…”

Section: Cortisol Production In Nccahmentioning

confidence: 96%

Challenges in treatment of patients with non-classic congenital adrenal hyperplasia

Adriaansen¹,

Schröder²,

Span

et al. 2022

Front. Endocrinol.

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Congenital adrenal hyperplasia (CAH) due to 21α-hydroxylase deficiency (21OHD) or 11β-hydroxylase deficiency (11OHD) are congenital conditions with affected adrenal steroidogenesis. Patients with classic 21OHD and 11OHD have a (nearly) complete enzyme deficiency resulting in impaired cortisol synthesis. Elevated precursor steroids are shunted into the unaffected adrenal androgen synthesis pathway leading to elevated adrenal androgen concentrations in these patients. Classic patients are treated with glucocorticoid substitution to compensate for the low cortisol levels and to decrease elevated adrenal androgens levels via negative feedback on the pituitary gland. On the contrary, non-classic CAH (NCCAH) patients have more residual enzymatic activity and do generally not suffer from clinically relevant glucocorticoid deficiency. However, these patients may develop symptoms due to elevated adrenal androgen levels, which are most often less elevated compared to classic patients. Although glucocorticoid treatment can lower adrenal androgen production, the supraphysiological dosages also may have a negative impact on the cardiovascular system and bone health. Therefore, the benefit of glucocorticoid treatment is questionable. An individualized treatment plan is desirable as patients can present with various symptoms or may be asymptomatic. In this review, we discuss the advantages and disadvantages of different treatment options used in patients with NCCAH due to 21OHD and 11OHD.

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“…Valori di 17OH-progesterone (17OHP) in fase follicolare del ciclo mestruale misurato con metodo immunometrico < 2,00 ng/mL permettono di escludere la 21-NCAH con un valore predittivo negativo del 100%. Tuttavia, un recente studio condotto dal nostro gruppo ha dimostrato che la prevalenza della 21-NCAH nella popolazione di PCOS con 17OHP in fase follicolare del ciclo mestruale ≥ 2,00 ng/mL è del 33% [4]. Questa sottopopolazione di PCOS deve pertanto venire sottoposta a esami di secondo livello necessari a escludere o supportare il sospetto diagnostico di 21-NCAH e, quindi, giustificare l'effettuazione dell'analisi genetica del CYP21A2 per la conferma diagnostica [4].…”

Section: Iperplasia Surrenalica Congenitaunclassified

Le PCOS secondarie a endocrinopatie

et al. 2021

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Steroid biomarkers for identifying non-classic adrenal hyperplasia due to 21-hydroxylase deficiency in a population of PCOS with suspicious levels of 17OH-progesterone

Cited by 13 publications

References 39 publications

17-Hydroxyprogesterone Response to Standard Dose Synacthen Stimulation Test in CYP21A2 Heterozygous Carriers and Non-carriers in Symptomatic and Asymptomatic Groups: Meta-analyses

17-Hydroxyprogesterone Response to Standard Dose Synacthen Stimulation Test in CYP21A2 Heterozygous Carriers and Non-carriers in Symptomatic and Asymptomatic Groups: Meta-analyses

Challenges in treatment of patients with non-classic congenital adrenal hyperplasia

Le PCOS secondarie a endocrinopatie

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