Endocrine Disorders and Genital Infections Impair Gynecological Health in APECED (APS-1)

ObjectiveIn autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) defects in the autoimmune regulator gene lead to impaired immunotolerance. We explored the effects of immunodeficiency and endocrinopathies on gynecologic health in patients with APECED.DesignCross-sectional cohort s...

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Autores principales:	Viivi Saari, Saila Laakso, Aila Tiitinen, Outi Mäkitie, Elina Holopainen
Formato:	article
Lenguaje:	EN
Publicado:	Frontiers Media S.A. 2021
Materias:	endocrine autoimmunity female premature ovarian insufficiency ovary androgen Diseases of the endocrine glands. Clinical endocrinology RC648-665
Acceso en línea:	https://doaj.org/article/7bb83e91f9aa43cebd1abe83396eda42
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spelling	oai:doaj.org-article:7bb83e91f9aa43cebd1abe83396eda422021-12-01T18:36:37ZEndocrine Disorders and Genital Infections Impair Gynecological Health in APECED (APS-1)1664-239210.3389/fendo.2021.784195https://doaj.org/article/7bb83e91f9aa43cebd1abe83396eda422021-11-01T00:00:00Zhttps://www.frontiersin.org/articles/10.3389/fendo.2021.784195/fullhttps://doaj.org/toc/1664-2392ObjectiveIn autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) defects in the autoimmune regulator gene lead to impaired immunotolerance. We explored the effects of immunodeficiency and endocrinopathies on gynecologic health in patients with APECED.DesignCross-sectional cohort study combined with longitudinal follow-up data.MethodsWe carried out a gynecologic evaluation, pelvic ultrasound, and laboratory and microbiologic assessment in 19 women with APECED. Retrospective data were collected from previous study visits and hospital records.ResultsThe study subjects’ median age was 42.6 years (range, 16.7-65.5). Sixteen patients (84%) had premature ovarian insufficiency, diagnosed at the median age of 16.5 years; 75% of them used currently either combined contraception or hormonal replacement therapy. In 76% of women, the morphology and size of the uterus were determined normal for age, menopausal status, and current hormonal therapy. Fifteen patients (79%) had primary adrenal insufficiency; three of them used dehydroepiandrosterone substitution. All androgen concentrations were under the detection limit in 11 patients (58%). Genital infections were detected in nine patients (47%); most of them were asymptomatic. Gynecologic C. albicans infection was detected in four patients (21%); one of the strains was resistant to azoles. Five patients (26%) had human papillomavirus infection, three of which were high-risk subtypes. Cervical cell atypia was detected in one patient. No correlation between genital infections and anti-cytokine autoantibodies was found.ConclusionsOvarian and adrenal insufficiencies manifested with very low androgen levels in over half of the patients. Asymptomatic genital infections, but not cervical cell atypia, were common in female patients with APECED.Viivi SaariViivi SaariSaila LaaksoSaila LaaksoSaila LaaksoAila TiitinenOuti MäkitieOuti MäkitieOuti MäkitieOuti MäkitieElina HolopainenElina HolopainenFrontiers Media S.A.articleendocrineautoimmunityfemalepremature ovarian insufficiencyovaryandrogenDiseases of the endocrine glands. Clinical endocrinologyRC648-665ENFrontiers in Endocrinology, Vol 12 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	endocrine autoimmunity female premature ovarian insufficiency ovary androgen Diseases of the endocrine glands. Clinical endocrinology RC648-665
spellingShingle	endocrine autoimmunity female premature ovarian insufficiency ovary androgen Diseases of the endocrine glands. Clinical endocrinology RC648-665 Viivi Saari Viivi Saari Saila Laakso Saila Laakso Saila Laakso Aila Tiitinen Outi Mäkitie Outi Mäkitie Outi Mäkitie Outi Mäkitie Elina Holopainen Elina Holopainen Endocrine Disorders and Genital Infections Impair Gynecological Health in APECED (APS-1)
description	ObjectiveIn autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) defects in the autoimmune regulator gene lead to impaired immunotolerance. We explored the effects of immunodeficiency and endocrinopathies on gynecologic health in patients with APECED.DesignCross-sectional cohort study combined with longitudinal follow-up data.MethodsWe carried out a gynecologic evaluation, pelvic ultrasound, and laboratory and microbiologic assessment in 19 women with APECED. Retrospective data were collected from previous study visits and hospital records.ResultsThe study subjects’ median age was 42.6 years (range, 16.7-65.5). Sixteen patients (84%) had premature ovarian insufficiency, diagnosed at the median age of 16.5 years; 75% of them used currently either combined contraception or hormonal replacement therapy. In 76% of women, the morphology and size of the uterus were determined normal for age, menopausal status, and current hormonal therapy. Fifteen patients (79%) had primary adrenal insufficiency; three of them used dehydroepiandrosterone substitution. All androgen concentrations were under the detection limit in 11 patients (58%). Genital infections were detected in nine patients (47%); most of them were asymptomatic. Gynecologic C. albicans infection was detected in four patients (21%); one of the strains was resistant to azoles. Five patients (26%) had human papillomavirus infection, three of which were high-risk subtypes. Cervical cell atypia was detected in one patient. No correlation between genital infections and anti-cytokine autoantibodies was found.ConclusionsOvarian and adrenal insufficiencies manifested with very low androgen levels in over half of the patients. Asymptomatic genital infections, but not cervical cell atypia, were common in female patients with APECED.
format	article
author	Viivi Saari Viivi Saari Saila Laakso Saila Laakso Saila Laakso Aila Tiitinen Outi Mäkitie Outi Mäkitie Outi Mäkitie Outi Mäkitie Elina Holopainen Elina Holopainen
author_facet	Viivi Saari Viivi Saari Saila Laakso Saila Laakso Saila Laakso Aila Tiitinen Outi Mäkitie Outi Mäkitie Outi Mäkitie Outi Mäkitie Elina Holopainen Elina Holopainen
author_sort	Viivi Saari
title	Endocrine Disorders and Genital Infections Impair Gynecological Health in APECED (APS-1)
title_short	Endocrine Disorders and Genital Infections Impair Gynecological Health in APECED (APS-1)
title_full	Endocrine Disorders and Genital Infections Impair Gynecological Health in APECED (APS-1)
title_fullStr	Endocrine Disorders and Genital Infections Impair Gynecological Health in APECED (APS-1)
title_full_unstemmed	Endocrine Disorders and Genital Infections Impair Gynecological Health in APECED (APS-1)
title_sort	endocrine disorders and genital infections impair gynecological health in apeced (aps-1)
publisher	Frontiers Media S.A.
publishDate	2021
url	https://doaj.org/article/7bb83e91f9aa43cebd1abe83396eda42
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Endocrine Disorders and Genital Infections Impair Gynecological Health in APECED (APS-1)

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