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Sex differences in medicine include sex-specific diseases or conditions which occur only in people of one sex due to underlying biological factors (for example, prostate cancer in males or uterine cancer in females); sex-related diseases, which are diseases that are more common to one sex (for example, breast cancer and systemic lupus erythematosus which occur predominantly in females); [1] and diseases which occur at similar rates in males and females but manifest differently according to sex (for example, peripheral artery disease). [2]
Sex differences should not be confused with gender differences. The US National Academy of Medicine recognizes sex differences as biological at the chromosomal and anatomical levels, whereas gender differences are based on self-representation and other factors including biology, environment and experience. [3] [4] That said, both biological and behavioural differences influence human health, and may do so differentially. Such factors can be inter-related and difficult to separate. Evidence-based approaches to sex and gender medicine try to examine the effects of both sex and gender as factors when dealing with medical conditions that may affect populations differently. [5] [6] [3]
As of 2021 [update] , over 10,000 articles had been published addressing sex and gender differences in clinical medicine and related literature.[ citation needed ] Sex and gender affect cardiovascular, [7] pulmonary [8] and autoimmune systems, [9] [10] gastroenterology, [11] [12] [13] hepatology, [5] nephrology, [14] endocrinology, [15] [16] haematology, [17] neurology, [18] [19] [20] [21] pharmacokinetics, and pharmacodynamics. [22] [23] [6] [3]
Sexually transmitted infections, which have a significant probability of transmission through sexual contact, can be contracted by either sex. Their occurrence may reflect economic and social as well as biological factors, leading to sex differences in the transmission, prevalence, and disease burden of STIs. [24]
Historically, medical research has primarily been conducted using the male body as the basis for clinical studies. The findings of these studies have often been applied across the sexes, and healthcare providers have traditionally assumed a uniform approach in treating both male and female patients. More recently, medical research has started to understand the importance of taking sex into account as evidence increases that the symptoms and responses to medical treatment may be very different between sexes. [25]
Females and males exhibit many differences in terms of risk of developing disease, receiving an accurate diagnosis, and responding to treatments. A patient's sex has been increasingly recognized as one of the most important modulators of clinical decision making. [26] Sex differences have been found across a broad range of disease areas, including many diseases which are sex-specific. The sex chromosome complement and sex hormone environment are known to be the primary constitutive difference between females and males. [27] The imbalance of gene expression between the X and Y chromosomes is present within virtually all cells in the human body. Sex hormones are crucial in body development and function and also thought to contribute to sex differences in some diseases. [28] It is suspected that many differences between the sexes are also influenced by social, environmental, and psychological factors which are difficult to tease apart from biological ones. [4]
Sex-related illnesses have various causes: [5]
Examples of sex-related illnesses and disorders in human females: [6]
Examples of sex-related illnesses and disorders in male humans: [6]
A genetic disorder is a health problem caused by one or more abnormalities in the genome. It can be caused by a mutation in a single gene (monogenic) or multiple genes (polygenic) or by a chromosomal abnormality. Although polygenic disorders are the most common, the term is mostly used when discussing disorders with a single genetic cause, either in a gene or chromosome. The mutation responsible can occur spontaneously before embryonic development, or it can be inherited from two parents who are carriers of a faulty gene or from a parent with the disorder. When the genetic disorder is inherited from one or both parents, it is also classified as a hereditary disease. Some disorders are caused by a mutation on the X chromosome and have X-linked inheritance. Very few disorders are inherited on the Y chromosome or mitochondrial DNA.
Estrogen is a category of sex hormone responsible for the development and regulation of the female reproductive system and secondary sex characteristics. There are three major endogenous estrogens that have estrogenic hormonal activity: estrone (E1), estradiol (E2), and estriol (E3). Estradiol, an estrane, is the most potent and prevalent. Another estrogen called estetrol (E4) is produced only during pregnancy.
An eating disorder is a mental disorder defined by abnormal eating behaviors that negatively affect a person's physical or mental health. Types of eating disorders include binge eating disorder, where the patient eats a large amount in a short period of time; anorexia nervosa, where the person has an intense fear of gaining weight and restricts food or overexercises to manage this fear; bulimia nervosa, where individuals eat a large quantity (binging) then try to rid themselves of the food (purging); pica, where the patient eats non-food items; rumination syndrome, where the patient regurgitates undigested or minimally digested food; avoidant/restrictive food intake disorder (ARFID), where people have a reduced or selective food intake due to some psychological reasons; and a group of other specified feeding or eating disorders. Anxiety disorders, depression and substance abuse are common among people with eating disorders. These disorders do not include obesity. People often experience comorbidity between an eating disorder and OCD. It is estimated 20–60% of patients with an ED have a history of OCD.
Binge eating disorder (BED) is an eating disorder characterized by frequent and recurrent binge eating episodes with associated negative psychological and social problems, but without the compensatory behaviors common to bulimia nervosa, OSFED, or the binge-purge subtype of anorexia nervosa.
Sexual dysfunction is difficulty experienced by an individual or partners during any stage of normal sexual activity, including physical pleasure, desire, preference, arousal, or orgasm. The World Health Organization defines sexual dysfunction as a "person's inability to participate in a sexual relationship as they would wish". This definition is broad and is subject to many interpretations. A diagnosis of sexual dysfunction under the DSM-5 requires a person to feel extreme distress and interpersonal strain for a minimum of six months. Sexual dysfunction can have a profound impact on an individual's perceived quality of sexual life. The term sexual disorder may not only refer to physical sexual dysfunction, but to paraphilias as well; this is sometimes termed disorder of sexual preference.
Sexual medicine or psychosexual medicine as defined by Masters and Johnsons in their classic Textbook of Sexual Medicine, is "that branch of medicine that focuses on the evaluation and treatment of sexual disorders, which have a high prevalence rate." Examples of disorders treated with sexual medicine are erectile dysfunction, hypogonadism, and prostate cancer. Sexual medicine often uses a multidisciplinary approach involving physicians, mental health professionals, social workers, and sex therapists. Sexual medicine physicians often approach treatment with medicine and surgery, while sex therapists often focus on behavioral treatments.
Hyperandrogenism is a medical condition characterized by high levels of androgens. It is more common in women than men. Symptoms of hyperandrogenism may include acne, seborrhea, hair loss on the scalp, increased body or facial hair, and infrequent or absent menstruation. Complications may include high blood cholesterol and diabetes. It occurs in approximately 5% of women of reproductive age.
Sex-determining region Y protein (SRY), or testis-determining factor (TDF), is a DNA-binding protein encoded by the SRY gene that is responsible for the initiation of male sex determination in therian mammals. SRY is an intronless sex-determining gene on the Y chromosome. Mutations in this gene lead to a range of disorders of sex development with varying effects on an individual's phenotype and genotype.
Sex differences in human physiology are distinctions of physiological characteristics associated with either male or female humans. These differences are caused by the effects of the different sex chromosome complement in males and females, and differential exposure to gonadal sex hormones during development. Sexual dimorphism is a term for the phenotypic difference between males and females of the same species.
Men's health is a state of complete physical, mental, and social well-being, as experienced by men, and not merely the absence of disease. Differences in men's health compared to women's can be attributed to biological factors, behavioural factors, and social factors.
Gender is correlated with the prevalence of certain mental disorders, including depression, anxiety and somatic complaints. For example, women are more likely to be diagnosed with major depression, while men are more likely to be diagnosed with substance abuse and antisocial personality disorder. There are no marked gender differences in the diagnosis rates of disorders like schizophrenia and bipolar disorder. Men are at risk to suffer from post-traumatic stress disorder (PTSD) due to past violent experiences such as accidents, wars and witnessing death, and women are diagnosed with PTSD at higher rates due to experiences with sexual assault, rape and child sexual abuse. Nonbinary or genderqueer identification describes people who do not identify as either male or female. People who identify as nonbinary or gender queer show increased risk for depression, anxiety and post-traumatic stress disorder. People who identify as transgender demonstrate increased risk for depression, anxiety, and post-traumatic stress disorder.
Pseudohermaphroditism is a condition in which an individual has a matching chromosomal and gonadal tissue sex, but mismatching external genitalia.
Disorders of sex development (DSDs), also known as differences in sex development, diverse sex development and variations in sex characteristics (VSC), are congenital conditions affecting the reproductive system, in which development of chromosomal, gonadal, or anatomical sex is atypical.
Feminizing hormone therapy, also known as transfeminine hormone therapy, is hormone therapy and sex reassignment therapy to change the secondary sex characteristics of transgender people from masculine or androgynous to feminine. It is a common type of transgender hormone therapy and is used to treat transgender women and non-binary transfeminine individuals. Some, in particular intersex people but also some non-transgender people, take this form of therapy according to their personal needs and preferences.
Klinefelter syndrome (KS), also known as 47,XXY, is an aneuploid genetic condition where the recipient has an additional copy of the X chromosome. As the presence of a Y chromosome denotes male sex, people with Klinefelter syndrome are still genetically male, although they occasionally suffer health complications. These complications commonly include infertility and small, poorly functioning testicles. These symptoms are often noticed only at puberty, although this is one of the most common chromosomal disorders, occurring in one to two per 1,000 live births. It is named after American endocrinologist Harry Klinefelter, who identified the condition in the 1940s.
Gender-biased diagnosing is the idea that medical and psychological diagnosis are influenced by the gender of the patient. Several studies have found evidence of differential diagnosis for patients with similar ailments but of different sexes. Female patients face discrimination through the denial of treatment or miss-classification of diagnosis as a result of not being taken seriously due to stereotypes and gender bias. According to traditional medical studies, most of these medical studies were done on men thus overlooking many issues that were related to women's health. This topic alone sparked controversy and brought about question to the medical standard of our time. Popular media has illuminated the issue of gender bias in recent years. Research that was done on diseases that affected women more were less funded than those diseases that affected men and women equally.
Autism spectrum disorder (ASD) refers to a variety of conditions typically identified by challenges with social skills, communication, speech, and repetitive sensory-motor behaviors. The 11th International Classification of Diseases (ICD-11), released in January 2021, characterizes ASD by the associated deficits in the ability to initiate and sustain two-way social communication and restricted or repetitive behavior unusual for the individual's age or situation. Although linked with early childhood, the symptoms can appear later as well. Symptoms can be detected before the age of two and experienced practitioners can give a reliable diagnosis by that age. However, official diagnosis may not occur until much older, even well into adulthood. There is a large degree of variation in how much support a person with ASD needs in day-to-day life. This can be classified by a further diagnosis of ASD level 1, level 2, or level 3. Of these, ASD level 3 describes people requiring very substantial support and who experience more severe symptoms. ASD-related deficits in nonverbal and verbal social skills can result in impediments in personal, family, social, educational, and occupational situations. This disorder tends to have a strong correlation with genetics along with other factors. More research is identifying ways in which epigenetics is linked to autism. Epigenetics generally refers to the ways in which chromatin structure is altered to affect gene expression. Mechanisms such as cytosine regulation and post-translational modifications of histones. Of the 215 genes contributing, to some extent in ASD, 42 have been found to be involved in epigenetic modification of gene expression. Some examples of ASD signs are specific or repeated behaviors, enhanced sensitivity to materials, being upset by changes in routine, appearing to show reduced interest in others, avoiding eye contact and limitations in social situations, as well as verbal communication. When social interaction becomes more important, some whose condition might have been overlooked suffer social and other exclusion and are more likely to have coexisting mental and physical conditions. Long-term problems include difficulties in daily living such as managing schedules, hypersensitivities, initiating and sustaining relationships, and maintaining jobs.
Sex and gender differences in autism exist regarding prevalence, presentation, and diagnosis.
Autoimmunity refers to a pathological immune response of the body's immune system against itself. Autoimmune disease is widely recognized to be significantly more common in women than in men, and often presents differently between the sexes. The reasons for these disparities are still under investigation, but may in part involve the presence of an additional X chromosome in women, as well as the higher presence of female sex hormones such as estrogen. The risk, incidence, and character of autoimmune disease in women may also be associated with female-specific physiological changes, such as hormonal shifts during menses, pregnancy, and menopause.
The male-female health-survival paradox, also known as the morbidity-mortality paradox or gender paradox, is the phenomenon in which female humans experience more medical conditions and disability during their lives, but they unexpectedly live longer than males. This paradox, where females experience greater morbidity (diseases) but lower mortality (death) in comparison to males, is unusual since it is expected that experiencing disease increases the likelihood of death. However, in this case, the part of the population that experiences more disease and disability is the one that lives longer.
{{cite journal}}: CS1 maint: DOI inactive as of January 2024 (link)[Turner Syndrome] is one of the most common genetic syndromes that occurs only in females...
Klinefelter syndrome and the subsequent infertility phenotype caused by it are specific to males.