The unusual association of Graves' disease, chronic spontaneous urticaria, and premature ovarian failure: report of a case and HLA haplotype characterization

Ruggeri, Rosaria Maddalena; Vita, Giuseppe; D'Angelo, A; Quattrocchi, Paolina; Certo, Rosaria; Benvenga, Salvatore; Cannavò, Salvatore; Gangemi, Sebastiano

doi:10.1590/s0004-27302013000900013

Cited by 5 publications

(2 citation statements)

References 19 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…6,23,27 Certain HLA types have been found to be associated with POI. 51,52 In addition to HLA, a wider role for immune function genes is suggested. 23 Pathway analysis identified the genes IL11, NLRP11, and PRRC2A (BAT2) near signals for age at menopause in a GWAS in 2012, 23 with NLRP11 also identified as a potential candidate by the most recent GWAS.…”

Section: Immune Functionmentioning

confidence: 99%

Lessons from Genome-Wide Association Studies in Reproductive Medicine: Menopause

Ruth

2016

Semin Reprod Med

View full text Add to dashboard Cite

In recent years, common genetic variants have been identified by genome-wide association studies (GWASs) that have led to the detection of 44 genetic loci associated with approximately 6% of common variation in age at natural menopause. In the latest GWAS, doubling the sample size to approximately 70,000 women more than doubled the number of signals identified, from 17 to 56. In addition, low-frequency coding variants (< 5% minor allele frequency), with relatively large effect sizes, have been identified in two genes, by analyzing genome-wide exome data. GWAS has been very successful in identifying novel biological pathways involved in reproductive aging. Approximately two-thirds of the loci reported so far include genes involved in DNA damage response (DDR), highlighting the importance of this pathway in determining oocyte reserve. In addition, GWAS demonstrates that the hypothalamic-pituitary axis is involved in menopause timing as well as puberty timing, showing the first genetic link between timing of the start and end of reproductive life. Genetic variants have been used to explore the causal relationships between menopause timing and breast cancer. These studies demonstrate that for a 1 year increase in menopause age, there is a 6% increase in breast cancer risk, a value approximately double the estimate from epidemiological studies. Prolonged exposure to estrogen during reproductive life is the likely mechanism, rather than a direct effect of DDR variants on cancer risk. Further work is needed to determine the mechanism for the effect of each variant identified by GWAS and more variants will undoubtedly be discovered as sample sizes increase, denser single nucleotide polymorphism arrays and reference genomes are used, and populations from diverse ethnic groups are studied.

show abstract

Section: Immune Functionmentioning

confidence: 99%

Lessons from Genome-Wide Association Studies in Reproductive Medicine: Menopause

Ruth

2016

Semin Reprod Med

View full text Add to dashboard Cite

show abstract

“…Her laboratory investigations revealed abnormal HLA haplotypes. Although her serum anti-ovarian antibody titer was negative, the authors concluded the presence of autoimmune ovarian failure and a diagnosis of APS [13].…”

Section: Autoimmune Polyglandular Syndrome (Aps)mentioning

confidence: 97%

An adolescent girl with premature ovarian failure, Graves’ disease, and chronic urticaria: a case report

et al. 2020

View full text Add to dashboard Cite

Background Premature ovarian failure is characterized by amenorrhea, hypoestrogenism, and hypergonadotropinism, and occurs in women under 40 years of age. The prevalence of premature ovarian failure in women younger than 20 years of age is only 0.01%. Immune disorders are one of the causes of premature ovarian failure. Graves’ disease and chronic urticaria are also associated with immune disorders. Case presentation We report a case of a 15-year-old Han Chinese girl with premature ovarian failure complicated by Graves’ disease and chronic urticaria. She experienced menarche at 13 years of age and presented with amenorrhea after 7 months of irregular menstruation. Laboratory examinations indicated hypoestrogenism and hypergonadotropinism. Ultrasound imaging revealed that her uterus and ovaries were small in size. Gene and antibody tests related to premature ovarian failure returned negative results. Both thyroid peroxidase autoantibody and thyrotropin receptor antibody were positive. After reviewing the literature on the relationship between these three diseases and immune disorders, our patient was diagnosed as having atypical autoimmune polyglandular syndrome. After taking small doses of estrogen for 6 months, the size of her uterus increased, and her psychological anxiety was relieved. Conclusions We report a case of an unusual association of premature ovarian failure, Graves’ disease, and chronic urticaria. This case presents an atypical combination of adolescent autoimmune polyglandular syndrome, which is worthy of the attention of clinicians and presents an important lesson for them. Our case highlights that premature ovarian failure in adolescents requires long-term follow-up and medical treatment as well as psychological counselling.

show abstract

Autoimmune comorbidity in chronic spontaneous urticaria: A systematic review

Kolkhir

Borzova

Grattan³

et al. 2017

Autoimmunity Reviews

138

100

View full text Add to dashboard Cite

The unusual association of Graves' disease, chronic spontaneous urticaria, and premature ovarian failure: report of a case and HLA haplotype characterization

Cited by 5 publications

References 19 publications

Lessons from Genome-Wide Association Studies in Reproductive Medicine: Menopause

Lessons from Genome-Wide Association Studies in Reproductive Medicine: Menopause

An adolescent girl with premature ovarian failure, Graves’ disease, and chronic urticaria: a case report

Autoimmune comorbidity in chronic spontaneous urticaria: A systematic review

Contact Info

Product

Resources

About