21-Hydroxylase–deficient nonclassic adrenal hyperplasia is a progressive disorder: A multicenter study

Morán, Carlos; Azziz, Ricardo; Carmina, Enrico; Dewailly, Didier; Fruzzetti, Franca; Ibáñez, Lourdes; Knochenhauer, Eric S.; Marcondes, José Antônio Miguel; Mendonça, Berenice Bilharinho; Pignatelli, Duarte; Pugeat, Michel; Rohmer, V.; Speiser, Phyllis; Witchel, Selma F.

doi:10.1067/mob.2000.108020

Cited by 184 publications

(149 citation statements)

References 19 publications

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“…Basal 17OHP level should be assessed in absence of or well after any glucocorticoid treatment that might cause false negative results. The largest multicenter trial, reported by Moran et al (99), showed that baseline 17OHP level above 10 ng/ml is a sensitive criterion for NCAH diagnosis; in agreement with a more recent single-center study (100), morning baseline 17OHP <2 ng/ml was associated with 8% false negatives: i.e., patients with genetically proven NCAH. To enhance screening efficiency, an ACTH challenge test has been developed, using 250µg cosyntropin.…”

Section: Screening For Non-classical Congenital Adrenal Hyperplasia (supporting

confidence: 63%

MANAGEMENT OF ENDOCRINE DISEASE Hyperandrogenic states in women: pitfalls in laboratory diagnosis

Pugeat

Plotton

Perrière

et al. 2018

European Journal of Endocrinology

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Measuring total testosterone level is the first-line approach in assessing androgen excess in women.The main pitfalls in measuring testosterone relate to its low concentration and to the structural similarity between circulating androgens and testosterone, requiring accurate techniques with high specificity and sensitivity. These goals can be achieved by immunoassay using a specific antitestosterone monoclonal antibody, ideally after an extraction step. Liquid chromatography coupled to tandem mass spectrometry (LC-MS/MS) will be commonly used for measuring testosterone, providing optimal accuracy with a low limit of detection. Yet, the pitfalls of these two techniques are well identified and must be recognized and systematically addressed. In general, laboratories using direct testosterone immunoassay and mass spectrometry need to operate within a quality framework and be actively engaged in external quality control processes and standardization, so as to ensure appropriate interpretation irrespective of the particular laboratory. Circulating testosterone is strongly bound to sex-hormone binding-globulin (SHBG), and SHBG levels are typically low in overweight hyperandrogenic patients. Thus, low SHBG may decrease circulating testosterone to normal values, which will mask androgen excess status. One way to avoid this pitfall, awaiting direct free-testosterone assays that are yet to be developed, is to measure SHBG and calculate free testosterone. A few other pitfalls will be discussed in this review, including those of adrenal androgen exploration, with the aim of helping clinicians to better handle laboratory investigation of androgen excess disorders in women.

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Section: Screening For Non-classical Congenital Adrenal Hyperplasia (supporting

confidence: 63%

MANAGEMENT OF ENDOCRINE DISEASE Hyperandrogenic states in women: pitfalls in laboratory diagnosis

Pugeat

Plotton

Perrière

et al. 2018

European Journal of Endocrinology

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“…The symptoms/signs are usually mild and progressive, mimicking PCOS and may develop at a later stage. The prevalence of hirsutism in women with NCAH increases with age, and the degree of hyperandrogenism may worsen in postmenopausal women (36) in contrast to the amelioration found with aging in women with PCOS (26,27). In addition, patients with adrenal hyperplasia may also have IR and hyperinsulinemia contributing further to the unfavorable metabolic profile of menopause (37).…”

Section: Enzymatic Deficiencies (Congenital Adrenal Hyperplasia)mentioning

confidence: 82%

MANAGEMENT OF ENDOCRINE DISEASE: Hyperandrogenism after menopause

Markopoulos

Kassi

Alexandraki

et al. 2015

European Journal of Endocrinology

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Postmenopausal hyperandrogenism is a state of relative or absolute androgen excess originating from either the adrenals and/or the ovaries, clinically manifested as the appearance and/or increase in terminal hair growth or the development of symptoms/signs of virilization. In either settings, physicians need to evaluate such patients and exclude the presence of the relatively rare but potentially life-threatening underlying tumorous causes, particularly adrenal androgen-secreting tumors. It has been suggested that the rapidity of onset along with severity of symptom and the degree of androgen excess followed by relevant imaging studies may suffice to identify the source of excessive androgen secretion. However, up to date, there is no consensus regarding specific clinical and hormonal indices and/or imaging modalities required for diagnostic certainty. This is particularly relevant as the aging population is increasing and more cases of postmenopausal women with clinical/biochemical evidence of hyperandrogenism may become apparent. Furthermore, the long-term sequels of nontumorous hyperandrogenism in postmenopausal women in respect to cardiovascular morbidity and mortality still remain unsettled. This review delineates the etiology and pathophysiology of relative and absolute androgen excess in postmenopausal women. Also, it attempts to unravel distinctive clinical features along with specific hormonal cut-off levels and/or appropriate imaging modalities for the facilitation of the differential diagnosis and the identification of potential long-term sequels.

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“…Alguns casos, com o passar dos anos, tornam-se sintomáticos na infância com aceleração do crescimento, avanço da idade óssea e/ou pubarca precoce 11 . Mais comumente, a HAC-NC apresentase com quadro semelhante à síndrome dos ovários policísticos, tendo hirsutismo como manifestação mais freqüente (60% dos casos), além de amenorréia (54%), acne (33%) e infertilidade (13%) 12,13 . Ademais, obesidade e irregularidade menstrual são achados associados em ambas as entidades clínicas 1 .…”

Section: Discussionunclassified

Hiperplasia adrenal congênita: dosagem da 17-hidroxiprogesterona basal para seleção e casos para realização do teste de estímulo com ACTH sintético

Nóbrega¹,

Lima²,

Nóbrega³

et al. 2004

Rev. Bras. Ginecol. Obstet.

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21-Hydroxylase–deficient nonclassic adrenal hyperplasia is a progressive disorder: A multicenter study

Cited by 184 publications

References 19 publications

MANAGEMENT OF ENDOCRINE DISEASE Hyperandrogenic states in women: pitfalls in laboratory diagnosis

MANAGEMENT OF ENDOCRINE DISEASE Hyperandrogenic states in women: pitfalls in laboratory diagnosis

MANAGEMENT OF ENDOCRINE DISEASE: Hyperandrogenism after menopause

Hiperplasia adrenal congênita: dosagem da 17-hidroxiprogesterona basal para seleção e casos para realização do teste de estímulo com ACTH sintético

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