Kallmann syndrome patient with gender dysphoria, multiple sclerosis, and thrombophilia

Renukanthan, Aniruthan; Quinton, Richard; Turner, Benjamin; MacCallum, Peter; Davies, Andrew; Green, Richard; Evanson, Jane; Korbonits, Márta

doi:10.1007/s12020-015-0562-5

Cited by 6 publications

(4 citation statements)

References 39 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…In addition, the rate of gender dysphoria is significantly increased when comparing natal females with congenital adrenal hyperplasia to unaffected natal females, at 3.0% and ~0.2% respectively 2,27,41 . When considering natal males, there is less available data, but there have been case reports in which natal males expressing gender dysphoria were later diagnosed with congenital hypogonadotropic hypogonadism, a condition in which levels of endogenous androgens are significantly diminished throughout development and adult life 22,43 . Given the above data, the conservation of mammalian estrogenic metabolic pathways, as well as the corollaries between sex-specific developmental and behavioral patterns, we believe that evaluation of variants of genes associated with these developmental patterns constitute one initial avenue for exploring the origins of both gender dysphoria and gender identity in general.…”

Section: Discussionmentioning

confidence: 99%

The Use of Whole Exome Sequencing in a Cohort of Transgender Individuals to Identify Rare Genetic Variants

Theisen

Sundaram

Filchak

et al. 2019

Sci Rep

View full text Add to dashboard Cite

Approximately 0.5–1.4% of natal males and 0.2–0.3% of natal females meet DSM-5 criteria for gender dysphoria, with many of these individuals self-describing as transgender men or women. Despite recent improvements both in social acceptance of transgender individuals as well as access to gender affirming therapy, progress in both areas has been hampered by poor understanding of the etiology of gender dysphoria. Prior studies have suggested a genetic contribution to gender dysphoria, but previously proposed candidate genes have not yet been verified in follow-up investigation. In this study, we expand on the topic of gender identity genomics by identifying rare variants in genes associated with sexually dimorphic brain development and exploring how they could contribute to gender dysphoria. To accomplish this, we performed whole exome sequencing on the genomic DNA of 13 transgender males and 17 transgender females. Whole exome sequencing revealed 120,582 genetic variants. After filtering, 441 variants in 421 genes remained for further consideration, including 21 nonsense, 28 frameshift, 13 splice-region, and 225 missense variants. Of these, 21 variants in 19 genes were found to have associations with previously described estrogen receptor activated pathways of sexually dimorphic brain development. These variants were confirmed by Sanger Sequencing. Our findings suggest a new avenue for investigation of genes involved in estrogen signaling pathways related to sexually dimorphic brain development and their relationship to gender dysphoria.

show abstract

Section: Discussionmentioning

confidence: 99%

The Use of Whole Exome Sequencing in a Cohort of Transgender Individuals to Identify Rare Genetic Variants

Theisen

Sundaram

Filchak

et al. 2019

Sci Rep

View full text Add to dashboard Cite

show abstract

“…26 Multiple sclerosis is more common in women than in men, possibly due to the disease being linked to low testosterone or estrogen levels; therefore, sex hormones likely play a role in the risk and progression of MS. 27,28 Case reports have raised concerns for an increase in risk of MS due to hypogonadotropic hypogonadism. 29 The use of exogenous hormones in TrW, such as estrogen, may have an increased risk of MS, and 1 survey found that TGD persons with MS reported higher levels of disability and more frequent relapses than their cisgender counterparts. 3 The TrM not taking testosterone should be aware of a possible increased risk of autoimmunity due to estrogen remaining prevalent in their bodies.…”

Section: Psychosocial Historymentioning

confidence: 99%

Recommendations to Address the Unique Clinical and Psychological Needs of Transgender Persons Living With Multiple Sclerosis

Sullivan

Kane

Valentic

et al. 2022

International Journal of MS Care

View full text Add to dashboard Cite

CE Information Activity Available Online: To access the article and evaluation online, go to https://www.highmarksce.com/mscare. Target Audience: The target audience for this activity is physicians, advanced practice clinicians, nursing professionals, pharmacists, and other health care providers involved in the management of patients with multiple sclerosis (MS). Learning Objectives: Identify unique clinical and psychological care needs of transgender (TGD) patients with MS Describe best practice recommendations for the care of the TGD person living with MS Accreditation Statement: In support of improving patient care, this activity has been planned and implemented by the Consortium of Multiple Sclerosis Centers (CMSC) and MJH Life Sciences®. The CMSC is jointly accredited by the Accreditation Council for Continuing Medical Education (ACCME), the Accreditation Council for Pharmacy Education (ACPE), and the American Nurses Credentialing Center (ANCC), to provide continuing education for the health care team. Physician Credit: The CMSC designates this journal-based activity for a maximum of .5 AMA PRA Category 1 Credit(s)™. Physicians should claim only the credit commensurate with the extent of their participation in the activity. Nurse Credit: The CMSC designates this enduring material for .5 contact hours of nursing continuing professional development (NCPD) (none in the area of pharmacology). Disclosures: Francois Bethoux, MD, editor in chief of the International Journal of MS Care (IJMSC), has served as a planner for this activity. He has disclosed relationships with Springer Publishing (royalty); Qr8 (receipt of intellectual property rights/patent holder); Biogen (receipt of intellectual property rights/patent holder, speakers’ bureau); MedRhythms (consulting fee, contracted research); GW Pharmaceuticals, Genentech, Helius Medical Technologies, Osmotica, Ipsen (consulting fee); and Adamas Pharmaceuticals (contracted research). Alissa Mary Willis, MD, associate editor of IJMSC, has disclosed relationships with Greenwich Biosciences (consulting fee); Alexion (consulting fee, speakers’ bureau, contracted research); Genentech (consulting fee, speakers’ bureau); and Biogen, Bristol Myers Squibb (speakers’ bureau). Authors: Amy Sullivan, PsyD, has disclosed the following the following financial relationships: Consulting and Speakers Bureau: Novartis, Biogen, Bristol Myers Squibb and Genentech. Alexa Kane, PsyD, has disclosed no relevant financial relationships. Gianna Valentic has disclosed no relevant financial relationships. Mary Rensel, MD, has disclosed the following financial relationships: Advisory Board: EMD Serono and Biogen; Research Support: Medimmune, Novartis and Genentech; Speaker’s Bureau: Novartis, Genzyme, and Biogen. One peer reviewer for IJMSC has disclosed the following financial relationships: Consultant: Alexion, EMD Serono, Biogen, Novartis, Roche Genentech and Sanofi Genzyme; Research Support: Biogen, Novartis and Roche Genentech. Two peer reviewers disclosed no relevant financial relationships. The staff at IJMSC, CMSC, and MJH Life Sciences® who are in a position to influence content have disclosed no relevant financial relationships. Laurie Scudder, DNP, NP, continuing education director CMSC, has served as a planner and reviewer for this activity. She has disclosed no relevant financial relationships. Note : Financial relationships may have changed in the interval between listing these disclosures and publication of the article. Method of Participation: Release Date: February 1, 2022; Valid for Credit Through: February 1, 2023 In order to receive CME/CNE credit, participants must: 1) Review the continuing education information, including learning objectives and author disclosures.2) Study the educational content.3) Complete the evaluation, which is available at https://www.highmarksce.com/mscare. Statements of Credit are awarded upon successful completion of the evaluation. There is no fee to participate in this activity. Disclosure of Unlabeled Use: This educational activity may contain discussion of published and/or investigational uses of agents that are not approved by the FDA. The CMSC and MJH Life Sciences® do not recommend the use of any agent outside of the labeled indications. The opinions expressed in the educational activity are those of the faculty and do not necessarily represent the views of the CMSC or MJH Life Sciences®. Disclaimer: Participants have an implied responsibility to use the newly acquired information to enhance patient outcomes and their own professional development. The information presented in this activity is not meant to serve as a guideline for patient management. Any medications, diagnostic procedures, or treatments discussed in this publication should not be used by clinicians or other health care professionals without first evaluating their patients’ conditions, considering possible contraindications or risks, reviewing any applicable manufacturer’s product information, and comparing any therapeutic approach with the recommendations of other authorities.

show abstract

“…It is extremely interesting that endogenous oligodendrocyte precursor cells effectively recruited toward demyelinating lesions are mainly positive for FGFR1, which suggests that this lack of potential remyelinating cells would be because of anosmin-1 antagonizing the FGF2 motogenic effect [ 28 , 37 ] (this scenario has been described more extensively by de Castro and coworkers [ 23 , 42 ]). Indeed, the relationship between KS and demyelination/multiple sclerosis remains to be fully addressed after recent reports [ 43 , 44 , 45 ]. The real/direct contribution of ANOS1 gene to septo-optic dysplasia and deafness has been recently reevaluated together with the availability of new diagnostic tools [ 46–48 ].…”

Section: Other Functions Of Anosmin-1mentioning

confidence: 99%

ANOS1: a unified nomenclature for Kallmann syndrome 1 gene (KAL1) and anosmin-1

Castro¹,

Seal²,

Maggi³

2016

Briefings in Functional Genomics

View full text Add to dashboard Cite

It is accepted that confusion regarding the description of genetic variants occurs when researchers do not use standard nomenclature. The Human Genome Organization Gene Nomenclature Committee contacted a panel of consultants, all working on the KAL1 gene, to propose an update of the nomenclature of the gene, as there was a convention in the literature of using the ‘KAL1’ symbol, when referring to the gene, but using the name ‘anosmin-1’ when referring to the protein. The new name, ANOS1, reflects protein name and is more transferrable across species.

show abstract

Kallmann syndrome patient with gender dysphoria, multiple sclerosis, and thrombophilia

Cited by 6 publications

References 39 publications

The Use of Whole Exome Sequencing in a Cohort of Transgender Individuals to Identify Rare Genetic Variants

The Use of Whole Exome Sequencing in a Cohort of Transgender Individuals to Identify Rare Genetic Variants

Recommendations to Address the Unique Clinical and Psychological Needs of Transgender Persons Living With Multiple Sclerosis

ANOS1: a unified nomenclature for Kallmann syndrome 1 gene (KAL1) and anosmin-1

Contact Info

Product

Resources

About