The diagnosis of nonclassic congenital adrenal hyperplasia due to 21‐hydroxylase deficiency, based on serum basal or post‐<scp>ACTH</scp> stimulation 17‐hydroxyprogesterone, can lead to false‐positive diagnosis

Ambroziak, Urszula; Kępczyńska-Nyk, Anna; Kuryłowicz, Alina; Małunowicz, E; Wójcicka, Anna; Miśkiewicz, Piotr; Macech, Magdalena

doi:10.1111/cen.12935

Cited by 28 publications

(22 citation statements)

References 30 publications

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“…Moreover, we used a RIA assay, while liquid chromatography coupled with tandem mass spectrometry is the preferable method to assess steroid levels. Anyway, this latter technique is not yet very diffused worldwide, and in several recent works on this topic, RIA or enzyme-linked immunosorbent assay have been used to assess 17OHP levels 23,24 .…”

Section: Discussionmentioning

confidence: 99%

Basal levels of 17-hydroxyprogesterone can distinguish children with isolated precocious pubarche

et al. 2018

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Section: Discussionmentioning

confidence: 99%

Basal levels of 17-hydroxyprogesterone can distinguish children with isolated precocious pubarche

et al. 2018

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“…High concentrations of testosterone (over 200 ng/dL), DHEA-S (over 800 µg/ /dL), and 17(OH)-progesterone frequently accompany ACC [11,31]. Abnormalities in androgen levels require differentiation with polycystic ovarian syndrome and congenital adrenal hyperplasia [32,33].…”

Section: Tests For Hyperandrogenismmentioning

confidence: 99%

“…Duże stężenia testosteronu (przekraczające 200 ng/dl), DHEA-S (> 800 µg/dl) i 17(OH)-progesteronu częściej towarzyszą ACC [11,31]. Nieprawidłowości w oznaczeniach hormonalnych wymagają różnicowania z zespołem policystycznych jajników oraz wrodzonym przerostem nadnerczy [32,33].…”

Section: Badania W Kierunku Guza Chromochłonnegounclassified

Przypadkowo wykryty guz nadnercza (incydentaloma) u dorosłych — zasady postępowania rekomendowane przez Polskie Towarzystwo Endokrynologiczne

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et al. 2016

Endokrynologia Polska

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Introduction: A wide use of imaging techniques results in more frequent diagnosis of adrenal incidenataloma. Aim: To analyse the current state of knowledge on adrenal incidentaloma in adults in order to prepare practical management recommendations. Methods: Following a discussion, the Polish Society of Endocrinology expert working group have analysed the available data and summarised the analysis results in the form of recommendations. Imaging and hormonal assessment: Unenhanced adrenal computed tomography (CT) may be recommended as an initial assessment examination helpful in the differentiation between adenomas and "non-adenomatous" lesions. In the case of density > 10 Hounsfield units, CT with contrast medium washout assessment or MRI are recommended. However, in all patients with adrenal incidentaloma, hormonal assessment is recommended in order to exclude pheochromocytoma and hypercortisolism, notwithstanding the clinical picture or concomitant diseases. In addition, examination to exclude primary hyperaldosteronism is suggested in patients with diagnosed hypertension or hypokalaemia. Treatment: Surgical treatment should be recommended in patients with adrenal incidentaloma, where imaging examinations suggest a malignant lesion (oncological indication) or with confirmed hormonal activity (endocrinological indication). The basis of the surgical treatment is laparoscopic adrenalectomy. Patients with suspected pheochromocytoma must be pharmacologically prepared prior to surgery. In patients not qualified for surgery, control examinations (imaging and laboratory tests) should be established individually, taking into consideration such features as the size, image, and growth dynamics of the tumour, clinical symptoms, hormonal tests results, and concomitant diseases. (Endokrynol Pol 2016; 67 (2): 234-258)

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“…Hyperandrogenemia is a salient feature in many women who suffer irregular menses, oligo/anovulation, and infertility, including women with polycystic ovary syndrome (PCOS) (1), classic and nonclassic (late-onset) congenital adrenal hyperplasia (CAH) (2)(3)(4)(5), exogenous testosterone treatment in female to male transsexuals (6)(7)(8)(9)(10), exogenous androgen use (body builders), or environmental toxicity (11). Although each of these conditions feature androgen excess, in some cases (e.g., PCOS), it is not clear whether increased androgen levels are a consequence of reproductive pathology or directly contribute to the progression of reproductive pathology.…”

Section: Introductionmentioning

confidence: 99%

Gonadotrope androgen receptor mediates pituitary responsiveness to hormones and androgen-induced subfertility

et al. 2019

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women with PCOS (4,[24][25][26][27][28][29][30]. Notably, the 2xDHT mice do not exhibit alterations of basal serum estradiol, testosterone, or luteinizing hormone (LH); do not develop obesity; and show similar ovarian weight, serum levels of cholesterol, free fatty acids, leptin, TNFα, and IL-6 relative to controls even up to 3.5 months after DHT insertion (21,22,31).Due to the interconnected nature of the hypothalamic-pituitary-gonadal axis, effects of excess androgens could be exerted at multiple levels of the axis (22,32). While some androgen effects occur in the brain, as reported by others (32, 33), whether ARs in gonadotropes contribute to the dysregulation of female estrous cycles and gonadotropin secretion is unknown. To define how androgen/AR in the pituitary contributes to reproductive dysfunction, and the molecular mechanisms that are underlying the pathophysiology, we used the 2xDHT mouse model with intact (Control; AR fl/fl , Cre -) or disrupted AR in gonadotropes (PitARKO; AR fl/fl , Cre +/-) (34) to probe the role of AR in gonadotrope cells (Figure 1). Since pituitary responsiveness to gonadotropin-releasing hormone (GnRH) stimulation is disrupted by high androgen levels (35) in vitro, and because GnRH-mediated increases in cytosolic Ca 2+ are crucial for exocytosis of LH granules (36, 37), we studied GEM, a GTP-binding protein that binds calmodulin to reduce Ca 2+ influx (36-38). Our findings demonstrate important roles for gonadotropic AR in reproduction as an extraovarian regulatory factor. Gonadotropic AR-mediated reproductive dysfunction may act through GEM, reducing LH secretion from the pituitary in the presence of DHT. insight.jci.org

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The diagnosis of nonclassic congenital adrenal hyperplasia due to 21‐hydroxylase deficiency, based on serum basal or post‐ACTH stimulation 17‐hydroxyprogesterone, can lead to false‐positive diagnosis

Abstract: The diagnosis of NCCAH based only on serum 17OHP measurements (basal or poststimulated) may lead to false-positive diagnosis when performed by immunoassay with a cut-off value of ≥30 nmol/l. The definitive diagnosis can be established based on USP and/or genetic testing.

Cited by 28 publications

References 30 publications

Basal levels of 17-hydroxyprogesterone can distinguish children with isolated precocious pubarche

Basal levels of 17-hydroxyprogesterone can distinguish children with isolated precocious pubarche

Przypadkowo wykryty guz nadnercza (incydentaloma) u dorosłych — zasady postępowania rekomendowane przez Polskie Towarzystwo Endokrynologiczne

Gonadotrope androgen receptor mediates pituitary responsiveness to hormones and androgen-induced subfertility

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