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      Maturity-onset diabetes of the young type 3 and premature ovarian insufficiency: chance or causality: a case report and literature review

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          Abstract

          Summary

          We present the case of a 23-year-old patient with maturity-onset diabetes of the young type 3 (MODY 3) and premature ovarian insufficiency (POI). There is no known correlation between MODY 3 and POI, although POI can impair glucose metabolism, and MODY can cause microvascular complications such as POI. We did not find literature describing a correlation between these two pathologies nor did we find similar cases described in the literature.

          Learning points
          • Maturity-onset diabetes of the young type 3 (MODY 3) is an infrequent cause of diabetes that should be considered in young patients with atypical presentation of type 1 or type 2 diabetes.

          • MODY 3 can be associated with microvascular complications of diabetes, which is why it is important to diagnose as early as possible.

          • Impairment of glucose metabolism has been demonstrated in patients with premature ovarian insufficiency and menopause.

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          Most cited references28

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          ESHRE Guideline: management of women with premature ovarian insufficiency.

          What is the optimal management of women with premature ovarian insufficiency (POI) based on the best available evidence in the literature?
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            Maturity-onset diabetes of the young (MODY): how many cases are we missing?

            Maturity-onset diabetes of the young is frequently misdiagnosed as type 1 or type 2 diabetes. A correct diagnosis of MODY is important for determining treatment, but can only be confirmed by molecular genetic testing. We aimed to compare the regional distribution of confirmed MODY cases in the UK and to estimate the minimum prevalence. UK referrals for genetic testing in 2,072 probands and 1,280 relatives between 1996 and 2009 were examined by region, country and test result. Referral rate and prevalence were calculated using UK Census 2001 figures. MODY was confirmed in 1,177 (35%) patients, with HNF1A (52%) and GCK mutations (32%) being most frequent in probands confirmed with MODY. There was considerable regional variation in proband referral rates (from 50 per million for South West England and Scotland) and patients diagnosed with MODY (5.3 per million in Northern Ireland, 48.9 per million in South West England). Referral rates and confirmed cases were highly correlated (r = 0.96, p 80% of MODY is not diagnosed by molecular testing. The marked regional variation in the prevalence of confirmed MODY directly results from differences in referral rates. This could reflect variation in awareness of MODY or unequal access to genetic testing. Increased referral for diagnostic testing is required if the majority of MODY patients are to have the genetic diagnosis necessary for optimal treatment.
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              The 2012 hormone therapy position statement of: The North American Menopause Society.

              (2012)
              This position statement aimed to update the evidence-based position statement published by The North American Menopause Society (NAMS) in 2010 regarding recommendations for hormone therapy (HT) for postmenopausal women. This updated position statement further distinguishes the emerging differences in the therapeutic benefit-risk ratio between estrogen therapy (ET) and combined estrogen-progestogen therapy (EPT) at various ages and time intervals since menopause onset. An Advisory Panel of expert clinicians and researchers in the field of women's health was enlisted to review the 2010 NAMS position statement, evaluate new evidence, and reach consensus on recommendations. The Panel's recommendations were reviewed and approved by the NAMS Board of Trustees as an official NAMS position statement. Current evidence supports the use of HT for perimenopausal and postmenopausal women when the balance of potential benefits and risks is favorable for the individual woman. This position statement reviews the effects of ET and EPT on many aspects of women's health and recognizes the greater safety profile associated with ET. Recent data support the initiation of HT around the time of menopause to treat menopause-related symptoms and to prevent osteoporosis in women at high risk of fracture. The more favorable benefit-risk ratio for ET allows more flexibility in extending the duration of use compared with EPT, where the earlier appearance of increased breast cancer risk precludes a recommendation for use beyond 3 to 5 years.

                Author and article information

                Journal
                Endocrinol Diabetes Metab Case Rep
                Endocrinol Diabetes Metab Case Rep
                EDM
                Endocrinology, Diabetes & Metabolism Case Reports
                Bioscientifica Ltd (Bristol )
                2052-0573
                25 April 2022
                2022
                : 2022
                : 21-0166
                Affiliations
                [1 ]Sanitas EPS , Hospital Militar Central, Bogotá, Colombia
                [2 ]Sanitas EPS , Bogotá, Colombia
                [3 ]Universidad del Bosque , Bogotá, Colombia
                Author notes
                Correspondence should be addressed to M Alvarez; Email: mauricioalvarez613@ 123456gmail.com
                Author information
                http://orcid.org/0000-0003-3171-1043
                Article
                EDM210166
                10.1530/EDM-21-0166
                9175577
                35615950
                e576e3b2-b33e-492f-87da-78b59767791f
                © The authors

                This work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License..

                History
                : 09 April 2022
                : 25 April 2022
                Categories
                Adolescent/young adult
                Female
                Hispanic or Latino - other
                Colombia
                Ovaries
                Diabetes
                Gynaecology
                Unique/Unexpected Symptoms or Presentations of a Disease
                Unique/Unexpected Symptoms or Presentations of a Disease

                adolescent/young adult,female,hispanic or latino - other,colombia,ovaries,diabetes,gynaecology,unique/unexpected symptoms or presentations of a disease,may,2022

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