Pubertal development and premature ovarian insufficiency in patients with APECED

Objective: To determine the natural course of pubertal development, growth during puberty, and development of POI in females with autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED), also called autoimmune polyendocrine syndrome type I. Design: Longitudinal follow-up study. Metho...

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Veröffentlicht in:European journal of endocrinology 2020-11, Vol.183 (5), p.513-520
Hauptverfasser: Saari, Viivi, Holopainen, Elina, Mäkitie, Outi, Laakso, Saila
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container_title European journal of endocrinology
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creator Saari, Viivi
Holopainen, Elina
Mäkitie, Outi
Laakso, Saila
description Objective: To determine the natural course of pubertal development, growth during puberty, and development of POI in females with autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED), also called autoimmune polyendocrine syndrome type I. Design: Longitudinal follow-up study. Methods: A national cohort of females with APECED aged ≥12 years were followed during 1965–2018. Attainment of adult height was defined when patients’ height increased less than 1 cm per year. Diagnosis of POI was based on delayed puberty or POI symptoms with amenorrhea, and/or FSH ≥40 IU/L. Results: Altogether 40 women with APECED were followed up to the average age of 37.3 (range: 14.6–61.9) years; 16 females (40%) were ≥ 40 years. Pubertal development started spontaneously in 34 patients and 29 had spontaneous menarche. POI developed in 28 patients (70%) at the median age of 16.0 years (range: 11.3–36.5), and in 20 of them (71%) before attaining adult height. In 11 cases puberty was induced or completed by hormonal therapy. Patients with POI were significantly shorter at menarche, but adult heights did not differ from non-POI females. Patients with POI had more often primary adrenocortical insufficiency (93% vs 58%, P = 0.017) and ovarian antibodies (81% vs 30%, P=0.003) compared to those with normal ovarian function (n = 12). Conclusions: POI developed in the majority of patients with APECED, often before or shortly after menarche. Timely commencement of hormonal replacement therapy is important to ensure optimal pubertal development and growth. The possibility of fertility preservation before development of POI in APECED patients should be further studied.
doi_str_mv 10.1530/EJE-20-0516
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Design: Longitudinal follow-up study. Methods: A national cohort of females with APECED aged ≥12 years were followed during 1965–2018. Attainment of adult height was defined when patients’ height increased less than 1 cm per year. Diagnosis of POI was based on delayed puberty or POI symptoms with amenorrhea, and/or FSH ≥40 IU/L. Results: Altogether 40 women with APECED were followed up to the average age of 37.3 (range: 14.6–61.9) years; 16 females (40%) were ≥ 40 years. Pubertal development started spontaneously in 34 patients and 29 had spontaneous menarche. POI developed in 28 patients (70%) at the median age of 16.0 years (range: 11.3–36.5), and in 20 of them (71%) before attaining adult height. In 11 cases puberty was induced or completed by hormonal therapy. Patients with POI were significantly shorter at menarche, but adult heights did not differ from non-POI females. Patients with POI had more often primary adrenocortical insufficiency (93% vs 58%, P = 0.017) and ovarian antibodies (81% vs 30%, P=0.003) compared to those with normal ovarian function (n = 12). Conclusions: POI developed in the majority of patients with APECED, often before or shortly after menarche. Timely commencement of hormonal replacement therapy is important to ensure optimal pubertal development and growth. The possibility of fertility preservation before development of POI in APECED patients should be further studied.</description><identifier>ISSN: 0804-4643</identifier><identifier>ISSN: 1479-683X</identifier><identifier>EISSN: 1479-683X</identifier><identifier>DOI: 10.1530/EJE-20-0516</identifier><identifier>PMID: 33107435</identifier><language>eng</language><publisher>England: Bioscientifica Ltd</publisher><subject>Adolescent ; Adult ; Amenorrhea ; Autoimmune diseases ; Body height ; Candidiasis ; Clinical Study ; Dystrophy ; Female ; Females ; Fertility ; Follicle-stimulating hormone ; Follow-Up Studies ; Hormone Replacement Therapy ; Humans ; Longitudinal Studies ; Medicin och hälsovetenskap ; Menarche ; Menarche - immunology ; Middle Aged ; Ovaries ; Ovary - growth &amp; development ; Ovary - immunology ; Polyendocrinopathies, Autoimmune - drug therapy ; Polyendocrinopathies, Autoimmune - immunology ; Polyendocrinopathies, Autoimmune - physiopathology ; Primary Ovarian Insufficiency - drug therapy ; Primary Ovarian Insufficiency - immunology ; Primary Ovarian Insufficiency - physiopathology ; Puberty ; Puberty - immunology ; Reproductive status ; Young Adult</subject><ispartof>European journal of endocrinology, 2020-11, Vol.183 (5), p.513-520</ispartof><rights>2020 European Society of Endocrinology</rights><rights>Copyright BioScientifica Ltd. 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Design: Longitudinal follow-up study. Methods: A national cohort of females with APECED aged ≥12 years were followed during 1965–2018. Attainment of adult height was defined when patients’ height increased less than 1 cm per year. Diagnosis of POI was based on delayed puberty or POI symptoms with amenorrhea, and/or FSH ≥40 IU/L. Results: Altogether 40 women with APECED were followed up to the average age of 37.3 (range: 14.6–61.9) years; 16 females (40%) were ≥ 40 years. Pubertal development started spontaneously in 34 patients and 29 had spontaneous menarche. POI developed in 28 patients (70%) at the median age of 16.0 years (range: 11.3–36.5), and in 20 of them (71%) before attaining adult height. In 11 cases puberty was induced or completed by hormonal therapy. Patients with POI were significantly shorter at menarche, but adult heights did not differ from non-POI females. Patients with POI had more often primary adrenocortical insufficiency (93% vs 58%, P = 0.017) and ovarian antibodies (81% vs 30%, P=0.003) compared to those with normal ovarian function (n = 12). Conclusions: POI developed in the majority of patients with APECED, often before or shortly after menarche. Timely commencement of hormonal replacement therapy is important to ensure optimal pubertal development and growth. 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Holopainen, Elina ; Mäkitie, Outi ; Laakso, Saila</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-b484t-7d904ba95a67c2524c762c5fe18ed4be83090c8e5747de364cba6631a61140b63</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2020</creationdate><topic>Adolescent</topic><topic>Adult</topic><topic>Amenorrhea</topic><topic>Autoimmune diseases</topic><topic>Body height</topic><topic>Candidiasis</topic><topic>Clinical Study</topic><topic>Dystrophy</topic><topic>Female</topic><topic>Females</topic><topic>Fertility</topic><topic>Follicle-stimulating hormone</topic><topic>Follow-Up Studies</topic><topic>Hormone Replacement Therapy</topic><topic>Humans</topic><topic>Longitudinal Studies</topic><topic>Medicin och hälsovetenskap</topic><topic>Menarche</topic><topic>Menarche - immunology</topic><topic>Middle Aged</topic><topic>Ovaries</topic><topic>Ovary - growth &amp; development</topic><topic>Ovary - immunology</topic><topic>Polyendocrinopathies, Autoimmune - drug therapy</topic><topic>Polyendocrinopathies, Autoimmune - immunology</topic><topic>Polyendocrinopathies, Autoimmune - physiopathology</topic><topic>Primary Ovarian Insufficiency - drug therapy</topic><topic>Primary Ovarian Insufficiency - immunology</topic><topic>Primary Ovarian Insufficiency - physiopathology</topic><topic>Puberty</topic><topic>Puberty - immunology</topic><topic>Reproductive status</topic><topic>Young Adult</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Saari, Viivi</creatorcontrib><creatorcontrib>Holopainen, Elina</creatorcontrib><creatorcontrib>Mäkitie, Outi</creatorcontrib><creatorcontrib>Laakso, Saila</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>Immunology Abstracts</collection><collection>AIDS and Cancer Research Abstracts</collection><collection>MEDLINE - Academic</collection><collection>SwePub</collection><collection>SwePub Articles</collection><collection>SWEPUB Freely available online</collection><collection>SwePub Articles full text</collection><jtitle>European journal of endocrinology</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Saari, Viivi</au><au>Holopainen, Elina</au><au>Mäkitie, Outi</au><au>Laakso, Saila</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Pubertal development and premature ovarian insufficiency in patients with APECED</atitle><jtitle>European journal of endocrinology</jtitle><addtitle>Eur J Endocrinol</addtitle><date>2020-11-01</date><risdate>2020</risdate><volume>183</volume><issue>5</issue><spage>513</spage><epage>520</epage><pages>513-520</pages><issn>0804-4643</issn><issn>1479-683X</issn><eissn>1479-683X</eissn><abstract>Objective: To determine the natural course of pubertal development, growth during puberty, and development of POI in females with autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED), also called autoimmune polyendocrine syndrome type I. Design: Longitudinal follow-up study. Methods: A national cohort of females with APECED aged ≥12 years were followed during 1965–2018. Attainment of adult height was defined when patients’ height increased less than 1 cm per year. Diagnosis of POI was based on delayed puberty or POI symptoms with amenorrhea, and/or FSH ≥40 IU/L. Results: Altogether 40 women with APECED were followed up to the average age of 37.3 (range: 14.6–61.9) years; 16 females (40%) were ≥ 40 years. Pubertal development started spontaneously in 34 patients and 29 had spontaneous menarche. POI developed in 28 patients (70%) at the median age of 16.0 years (range: 11.3–36.5), and in 20 of them (71%) before attaining adult height. In 11 cases puberty was induced or completed by hormonal therapy. Patients with POI were significantly shorter at menarche, but adult heights did not differ from non-POI females. Patients with POI had more often primary adrenocortical insufficiency (93% vs 58%, P = 0.017) and ovarian antibodies (81% vs 30%, P=0.003) compared to those with normal ovarian function (n = 12). Conclusions: POI developed in the majority of patients with APECED, often before or shortly after menarche. Timely commencement of hormonal replacement therapy is important to ensure optimal pubertal development and growth. The possibility of fertility preservation before development of POI in APECED patients should be further studied.</abstract><cop>England</cop><pub>Bioscientifica Ltd</pub><pmid>33107435</pmid><doi>10.1530/EJE-20-0516</doi><tpages>8</tpages><oa>free_for_read</oa></addata></record>
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source MEDLINE; SWEPUB Freely available online; Oxford University Press Journals All Titles (1996-Current)
subjects Adolescent
Adult
Amenorrhea
Autoimmune diseases
Body height
Candidiasis
Clinical Study
Dystrophy
Female
Females
Fertility
Follicle-stimulating hormone
Follow-Up Studies
Hormone Replacement Therapy
Humans
Longitudinal Studies
Medicin och hälsovetenskap
Menarche
Menarche - immunology
Middle Aged
Ovaries
Ovary - growth & development
Ovary - immunology
Polyendocrinopathies, Autoimmune - drug therapy
Polyendocrinopathies, Autoimmune - immunology
Polyendocrinopathies, Autoimmune - physiopathology
Primary Ovarian Insufficiency - drug therapy
Primary Ovarian Insufficiency - immunology
Primary Ovarian Insufficiency - physiopathology
Puberty
Puberty - immunology
Reproductive status
Young Adult
title Pubertal development and premature ovarian insufficiency in patients with APECED
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