Turner syndrome, sexology, quality of life, depression, anxiety and medicinal treatment - untangling the intricacies
Author
Gravholt, Claus Højbjerg
Term
4. term
Publication year
2019
Submitted on
2019-05-07
Abstract
Turner syndrome is a sex chromosome condition involving loss or alteration of the second X chromosome and is commonly associated with short stature, congenital anomalies, and ovarian failure leading to infertility and a need for hormone therapy. Beyond these medical issues, sexuality can be complex due to body image, neurocognitive profiles, comorbidity, and social factors. International studies suggest later sexual debut, fewer partners, and lower confidence as a sexual partner among women with Turner syndrome, but existing evidence is fragmented, based on small samples, and rarely holistic; hypogonadism alone does not explain all difficulties. This thesis asks whether there is a distinct problem regarding sexuality in Turner syndrome and aims to examine sexuality in a holistic framework together with quality of life, depression, anxiety, and medical treatment. It reviews epidemiology, diagnostic patterns, and current knowledge, and sets up a broad, association-based questionnaire study in Denmark in collaboration with the Danish Turner syndrome patient association, targeting all members aged 18 years and older. The questionnaire is designed to capture sexual activity and function, intimacy, body image, fertility experiences, hormone and other treatments, comorbidity, mental health, and social functioning. The goal is to generate integrated evidence to inform counseling and care, including more open clinician–patient conversations about sex. Results from the questionnaire are not included in the present excerpt.
Turner syndrom er en kønskromosomtilstand med tab eller ændring af det andet X-kromosom, som ofte medfører lav vækst, medfødte misdannelser og især ovariesvigt med infertilitet og behov for hormonbehandling. Ud over de medicinske forhold kan seksualiteten være kompleks på grund af kropsbillede, neurokognitive profiler, komorbiditet og sociale forhold. International litteratur peger på senere seksuel debut, færre partnere og lavere selvtillid som seksuel partner blandt kvinder med Turner syndrom, men data er fragmenterede, små og sjældent holistiske, og hypogonadisme alene forklarer ikke alle udfordringer. Denne afhandling rejser det centrale spørgsmål, om der overhovedet er et særligt problem i relation til seksualitet ved Turner syndrom, og sigter mod en helhedsorienteret belysning af seksualitet i sammenhæng med livskvalitet, depression, angst og medicinsk behandling. Afhandlingen gennemgår epidemiologi, diagnostiske mønstre og eksisterende viden og planlægger et bredt, foreningsbaseret spørgeskemastudie i Danmark i samarbejde med Dansk Forening for Turner Syndrom, rettet mod alle medlemmer over 18 år. Spørgeskemaet skal afdække seksuel aktivitet og funktion, intimitet, kropsbillede, fertilitetsforløb, hormon- og anden behandling, komorbiditet, mental sundhed og sociale forhold. Målet er at skabe et samlet grundlag for bedre rådgivning og behandling, herunder mere åbne samtaler om seksualitet mellem patienter og behandlere. Resultater af spørgeskemaundersøgelsen er ikke inkluderet i den foreliggende del af teksten.
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