scholarly journals Primary Ovarian Insufficiency in women with Addison’s disease

2021 ◽  
Author(s):  
Elinor C Vogt ◽  
Lars Breivik ◽  
Ellen C Røyrvik ◽  
Marianne Grytaas ◽  
Eystein S Husebye ◽  
...  
Keyword(s):  
Clinical Characteristics ◽  
Normal Population ◽  
Hormone Replacement ◽  
Addison’S Disease ◽  
Primary Ovarian Insufficiency ◽  
Addison's Disease ◽  
Specific Marker ◽  
Prescription Database ◽  
Ovarian Insufficiency ◽  
Genetic Characteristics

Abstract Context Primary ovarian insufficiency (POI) is defined by menopause before 40 years of age. POI prevalence is higher among women with autoimmune Addison’s disease (AAD) than in the general population, but their clinical characteristics are insufficiently studied. Objective To assess the prevalence of POI in a large cohort of AAD women and describe clinical, immunological, and genetic characteristics. Design and settings An observational population-based cohort study of The Norwegian National Addison Registry. The Norwegian Prescription Database (NorPD) was used to assess prescription of menopausal hormone replacement therapy (HRT). Patients A total of 458 women with AAD were studied. Main outcome measures The primary outcome was prevalence of POI. Secondary outcomes were clinical characteristics, autoantibodies, and genome-wide single nucleotide polymorphism (SNP) variation. Results The prevalence of POI was 10.2% (47/458) and one third developed POI before 30 years of age. POI preceded or coincided with AAD diagnosis in more than half of the women. The prevalence of concomitant autoimmune diseases was 72%, and AAD women with POI had more autoantibodies than AAD women without (≥2 autoantibodies in 78% vs 25%). Autoantibodies against side-chain cleavage enzyme (SCC) had the highest accuracy with a negative predictive value for POI of 96%. HRT use was high compared to the age adjusted normal population (11.3 % vs 0.7%). Conclusion One in ten AAD women have POI. Autoantibodies against SCC are the most specific marker for autoimmune POI. We recommend testing AAD women < 40 years with menstrual disturbances or fertility concerns for autoantibodies against SCC.

scholarly journals X-linked congenital adrenal hypoplasia: a case presentation

2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Hong Ouyang ◽  
Bo Chen ◽  
Na Wu ◽  
Ling Li ◽  
Runyu Du ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Hormone Replacement ◽  
Slipped Capital Femoral Epiphysis ◽  
Clinical Manifestations ◽  
Addison’S Disease ◽  
Addison's Disease ◽  
Case Presentation ◽  
Early Symptoms ◽  
Congenital Adrenal Hypoplasia ◽  
Adrenal Hypoplasia

Abstract Background Most patients with congenital adrenal hypoplasia (AHC) develop symptoms during infantile and juvenile periods, with varying clinical manifestations. AHC is a disease that is easily misdiagnosed as Addison’s disease or congenital adrenal hyperplasia (CAH). There was also a significant time difference between the age at which patients developed symptoms and the age at which they were diagnosed with AHC. Most patients showed early symptoms during infantile and juvenile periods, but were diagnosed with AHC many years later. Case presentation We are currently reporting a male patient who developed systemic pigmentation at age 2 and was initially diagnosed with Addison’s disease. At 22 years of age, he experienced a slipped capital femoral epiphysis (SCFE), a disease mostly seen in adolescents aged 8–15 years, an important cause of which is endocrine disorder. Testes evaluated using color Doppler Ultrasonography suggested microcalcifications. Further genetic testing and auxiliary examinations revealed that the patient had hypogonadotropic hypogonadism (HH) and DAX-1 gene disorders, at which time he was diagnosed with AHC complicated by HH. He was given hormone replacement therapy, followed by regular outpatient review to adjust the medication. Conclusions The typical early symptoms of AHC are hyperpigmentation and ion disturbance during infantile and juvenile periods, while few patients with AHC develop puberty disorders as early symptoms. AHC is prone to being misdiagnosed as Addison’s disease, and then gradually develops the symptoms of HH in adolescence. The definitive diagnosis of AHC ultimately is based on the patient’s clinical presentation, laboratory results and genetic testing results.

scholarly journals Menarche in primary ovarian insufficiency after a month of hormone replacement therapy: a case report

2021 ◽  
Vol 15 (1) ◽  
Author(s):  
Biwen Cheng
Keyword(s):  
Replacement Therapy ◽  
Hormone Replacement ◽  
Estrogen Therapy ◽  
Primary Ovarian Insufficiency ◽  
Hormonal Replacement Therapy ◽  
Delayed Puberty ◽  
Ovarian Insufficiency ◽  
Breakthrough Bleeding ◽  
Hormonal Replacement ◽  
Ovarian Dysgenesis

Abstract Background Gynecologic anomalies, including uterine agenesis and ovarian dysgenesis, are some of the several differential diagnoses in adolescent females with primary amenorrhea and delayed puberty. Primary ovarian insufficiency is reported in the clinical practice of reproductive endocrinology can be determined by conducting sex hormone tests to evaluate the hypothalamic-pituitary-ovarian axis. However, confirmation of Mullerian agenesis by image modalities can be extremely challenging. Once the diagnosis is established, breakthrough bleeding usually occurs 2 to 3 years after hormonal replacement therapy. Case presentation We report a case of a seventeen year old Taiwanese female, 46 XX karyotype, with ovarian dysgenesis and an initial tentative diagnosis of uterine agenesis who experienced a breakthrough bleeding after a month of hormonal replacement therapy. Conclusions The breakthrough bleeding after a month of estrogen therapy in primary ovarian insufficiency is uncommon, and the diagnosis of the absent uterus can have an extensive psychological impact on patients and their families.

scholarly journals Effectiveness and safety of Er-xian Decoction (traditional Chinese medicine) for women with Primary ovarian insufficiency

2021 ◽  
Author(s):  
Zhefen Mai ◽  
◽  
Chunli Lu ◽  
Zixun Zhuang ◽  
Hongxia Ma
Keyword(s):  
Controlled Trial ◽  
Hormone Replacement ◽  
Grey Literature ◽  
Ovarian Failure ◽  
Primary Ovarian Insufficiency ◽  
Cochrane Library ◽  
China National Knowledge Infrastructure ◽  
Clinical Trial Registry ◽  
Ovarian Insufficiency ◽  
Review Question

Review question / Objective: To assess the effectiveness and safety of Er-xian Decoction in the treatment of primary ovarian insufficiency. Information sources: We will search the following electronic databases, including 3 English databases (PubMed, EMBASE, Cochrane Library) and 4 Chinese databases (China national knowledge infrastructure database, Wanfang database, Sinomed Database, and VIP database). The filters were English and Chinese language. The following key words in Title/Abstract or MeSH search headings are used: “Er-xian” and “Hormone replacement therapy” or “Femoston” or “Climen” and “Primary ovarian insufficiency” or “Ovarian failure” or “Premature ovarian failure” or “POI” and “random*” or “Randomized controlled trial”. In addition, we also search the grey literature such as conference proceedings and dissertations in CNKI and Wanfang database, and relevant trials will be searched in ClinicalTrial.gov database [20] and Chinese Clinical Trial Registry for unpublished trials and protocols. References of all included studies will be hand searched for additional eligible studies.

scholarly journals Microsatellite Polymorphism of the MHC Class I Chain-Related (MIC-A and MIC-B) Genes Marks the Risk for Autoimmune Addison’s Disease

1999 ◽  
Vol 84 (10) ◽  
pp. 3701-3707 ◽  
Author(s):  
Giovanni Gambelunghe ◽  
Alberto Falorni ◽  
Mehran Ghaderi ◽  
Stefano Laureti ◽  
Cristina Tortoioli ◽  
...  
Keyword(s):  
Healthy Subjects ◽  
Absolute Risk ◽  
Central Italy ◽  
Addison’S Disease ◽  
Class I ◽  
Addison's Disease ◽  
Specific Marker ◽  
Hla Dr ◽  
Intron 1 ◽  
Hla Dr3

Abstract The major histocompatibility complex class I chain-related MIC-A and MIC-B genes are located on chromosome 6 between the histocompatibility leucocyte antigen (HLA)-B and the B-associated transcript genes. The presence of 21-hydroxylase autoantibodies is a sensitive and specific marker of autoimmune Addison’s disease. We studied the polymorphism of exon 5 of the MIC-A gene, of intron 1 of the MIC-B gene, and of HLA-DRB1, -DQA1, and -DQB1 genes in 28 autoimmune (21-hydroxylase autoantibody positive) Addison’s disease patients and in 75 healthy subjects from central Italy. The MIC-A5.1 allele was significantly more frequent in Addison’s disease patients (79%) than in healthy subjects (36%) [odds ratio (OR) = 6.52, corrected P (Pc) = 0.0015], whereas MIC-A6 was significantly reduced in affected subjects (15% vs. 56%, OR = 0.13, Pc = 0.002). The A5.1/A5.1 genotype had an OR for autoimmune Addison’s disease as high as 18.0 and an absolute risk of 1 per 1131. In the presence of MIC-A5.1, MICB-CA-25 was significantly increased in Addison’s disease patients (25% vs. 4%, OR = 8.0, P = 0.0039, Pc = 0.047). The MICB-CA-17 allele was absent in Addison’s disease patients, but present in more than 25% healthy individuals (OR = 0.10, P = 0.0025, Pc = 0.03). Among HLA-DR and -DQ haplotypes, only DRB1*03-DQA1*0501-DQB1*0201 (DR3/DQ2) was significantly more frequent in Addison’s disease patients than in healthy subjects, but only in the presence of MIC-A5.1. The frequency of MIC-A5.1 was significantly increased in Addison’s disease patients only in the presence of HLA-DR3-DQ2. Our study demonstrates that susceptibility to autoimmune Addison’s disease is linked to the MIC-A microsatellite allele 5.1 and that both MIC-A5.1 and HLA-DR3/DQ2 are necessary to confer increased genetic risk for Addison’s disease.

scholarly journals Autoantibody Response Against NALP5/MATER in Primary Ovarian Insufficiency and in Autoimmune Addison's Disease

2015 ◽  
Vol 100 (5) ◽  
pp. 1941-1948 ◽  
Author(s):  
Annalisa Brozzetti ◽  
Mohammad Alimohammadi ◽  
Silvia Morelli ◽  
Viviana Minarelli ◽  
Åsa Hallgren ◽  
...  
Keyword(s):  
Clinical Signs ◽  
Addison’S Disease ◽  
Addison's Disease ◽  
Ovarian Insufficiency ◽  
Autoantibody Response ◽  
Autoimmune Polyendocrine Syndrome ◽  
Steroidogenic Cell ◽  
Healthy Control ◽  
Experimental Autoimmune

Abstract Context: NACHT leucine-rich-repeat protein 5 (NALP5)/maternal antigen that embryo requires (MATER) is an autoantigen in hypoparathyroidism associated with autoimmune polyendocrine syndrome type 1 (APS1) but is also expressed in the ovary. Mater is an autoantigen in experimental autoimmune oophoritis. Objectives: The objectives of the study were to determine the frequency of NALP5/MATER autoantibodies (NALP5/MATER-Ab) in women with premature ovarian insufficiency (POI) and in patients with autoimmune Addison's disease (AAD) and to evaluate whether inhibin chains are a target for autoantibodies in POI. Methods: Autoantibodies against NALP5/MATER and inhibin chains-α and -βA were determined by radiobinding assays in 172 patients with AAD without clinical signs of gonadal insufficiency, 41 women with both AAD and autoimmune POI [steroidogenic cell autoimmune POI (SCA-POI)], 119 women with idiopathic POI, 19 patients with APS1, and 211 healthy control subjects. Results: NALP5/MATER-Ab were detected in 11 of 19 (58%) sera from APS1 patients, 12 of 172 (7%) AAD sera, 5 of 41 (12%) SCA-POI sera, 0 of 119 idiopathic POI sera and 1 of 211 healthy control sera (P < .001). None of 160 POI sera, including 41 sera from women with SCA-POI and 119 women with idiopathic POI, and none of 211 healthy control sera were positive for inhibin chain-α/βA autoantibodies. Conclusions: NALP5/MATER-Ab are associated with hypoparathyroidism in APS1 but are present also in patients with AAD and in women with SCA-POI without hypoparathyroidism. Inhibin chains do not appear to be likely candidate targets of autoantibodies in human POI.

scholarly journals Natural history of autoimmune primary ovarian insufficiency in patients with Addison’s disease: from normal ovarian function to overt ovarian dysfunction

2017 ◽  
Vol 177 (4) ◽  
pp. 329-337 ◽  
Author(s):  
Annamaria De Bellis ◽  
Giuseppe Bellastella ◽  
Alberto Falorni ◽  
Ernesto Aitella ◽  
Mariluce Barrasso ◽  
...  
Keyword(s):  
Ovarian Function ◽  
Subsequent Development ◽  
Addison’S Disease ◽  
Predictive Marker ◽  
Addison's Disease ◽  
Ovarian Dysfunction ◽  
Ovarian Insufficiency ◽  
Group 2 ◽  
Follicular Reserve

Context Women with autoimmune Addison’s disease with normal ovulatory cycles but positive for steroid cell antibodies (StCA) have been considered at risk of premature ovarian insufficiency (POI). Design Thirty-three women younger than 40 years, with subclinical-clinical autoimmune Addison’s disease but with normally ovulatory menses, were followed up for 10 years to evaluate the long-term time-related variations of StCA, ovarian function and follicular reserve. All patients and 27 control women were investigated at the start and every year for the presence and titre of StCA (by indirect immunofluorescence), serum concentrations of anti-Mullerian hormone (AMH) and ovarian function at four consecutive menses every year. Results At the start of the study StCA were present in 16 women (group 1), at low/middle titres (≤1:32) in seven of them (43.8%, group 1A), at high titres (>1:32) in the remaining nine patients (group 1B, 56.2%), while they were absent from 17 patients (group 2). During the follow-up period, all women in group 1A remained StCA-positive at low/middle titres with normal ovulatory menses and normal gonadotrophin and AMH levels, while all patients in group 1B showed a further increase of StCA titres (1:128–1:256) and progressed through three stages of ovarian function. None of the patients in group 2 and controls showed the appearance of StCA or ovarian dysfunction during the follow-up. Conclusions The presence of StCA at high titres can be considered a good predictive marker of subsequent development of autoimmune POI. To single out the stages of autoimmune POI may allow a timely therapeutic choice in the subclinical and early clinical stages.

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