Differences In Sexual Function Research Articles

A Study on Sexual Function, Sexual Stress, and Quality of Life in Middle Aged Women Patients with Diabetes Mellitus

Purpose The purpose of this study was to examine the relationships among sexual function, sexual stress, and quality of life inmiddle aged women patients with diabetes mellitus. Methods Data were collected through questionnaires distributed to 154 middle aged women patient with diabetesmellitus in one hospital. Results Themean sexual function score was 12.99±9.11. There were statistically significant differences in sexual function according to age, level of education, employment status, time of being diagnosed with diabetesmellitus, number of complications, self-monitoring of blood glucose,menopausal status, and level of glycosylated hemoglobin. Themean sexual stress score was 26.99±16.88. The score of quality of life was 79.12±14.30. There were statistically significant differences in quality of life according to level of education. Sexual function was negatively correlated with sexual stress (r=-.46 p<.001) and positively correlated with quality of life (r=.32, p<.001), while sexual stress was negatively correlated with quality of life (r=-.36 p<.001). Conclusion Higher sexual dysfunction in middle aged women patients with diabetes mellitus was correlated with lower sexual stress and improved quality of life, while lower sexual stress was correlated with improved quality of life. 주요어: ì¤‘ë „ì—¬ì„±, 당뇨병, 성기능, 성 ìŠ¤íŠ¸ë ˆìŠ¤, 삶의 질 Key words: Middle age, Women, Diabetes mellitus, Sexual function, Quality of life

Parental Report Of Gender Differences In Sexual Functioning Among Adolescents with Down Syndrome: A Jordanian Experience

Parental Report Of Gender Differences In Sexual Functioning Among Adolescents with Down Syndrome: A Jordanian Experience

The Lived Experiences of Sexual Desire Among Chinese-Canadian Men and Women

How North American Chinese conceptualize and experience sexual desire is not well understood, and may have implications for understanding cross-cultural differences in sexual functioning. This study examined narratives of sexual desire among Chinese men and women in Canada. Ten each of Chinese men (age: M = 24.0, range = 18–42) and women (age: M = 23.5, range = 19–38) took part in semi-structured interviews in which they were invited to share personal accounts of sexual desire. A phenomenological analysis of participants’ responses showed men and women described desire as having genital, nongenital-physical, and cognitive-emotional components. Chinese cultural prohibitions against sexuality, particularly pronounced in women, were a common inhibitor of desire. Relationship factors appeared as a frequently endorsed context and target of desire. These findings suggest that relationship context is of paramount importance in Chinese individuals and that previous findings of low sexual functioning in this group may be due to inhibition from cultural factors. However, the experience of desire in Chinese individuals is also in many ways similar to that of existing conceptualizations from Western samples.

Sexual Anatomy and Function in Women With and Without Genital Mutilation: A Cross-Sectional Study.

Female genital mutilation (FGM), the partial or total removal of the external genitalia for non-medical reasons, can affect female sexuality. However, only few studies are available, and these have significant methodologic limitations. To understand the impact of FGM on the anatomy of the clitoris and bulbs using magnetic resonance imaging and on sexuality using psychometric instruments and to study whether differences in anatomy after FGM correlate with differences in sexual function, desire, and body image. A cross-sectional study on sexual function and sexual anatomy was performed in women with and without FGM. Fifteen women with FGM involving cutting of the clitoris and 15 uncut women as a control group matched by age and parity were prospectively recruited. Participants underwent pelvic magnetic resonance imaging with vaginal opacification by ultrasound gel and completed validated questionnaires on desire (Sexual Desire Inventory), body image (Questionnaire d'Image Corporelle [Body Image Satisfaction Scale]), and sexual function (Female Sexual Function Index). Primary outcomes were clitoral and bulbar measurements on magnetic resonance images. Secondary outcomes were sexual function, desire, and body image scores. Women with FGM did not have significantly decreased clitoral glans width and body length but did have significantly smaller volume of the clitoris plus bulbs. They scored significantly lower on sexual function and desire than women without FGM. They did not score lower on Female Sexual Function Index sub-scores for orgasm, desire, and satisfaction and on the Questionnaire d'Image Corporelle but did report significantly more dyspareunia. A larger total volume of clitoris and bulbs did not correlate with higher Female Sexual Function Index and Sexual Desire Inventory scores in women with FGM compared with uncut women who had larger total volume that correlated with higher scores. Women with FGM have sexual erectile tissues for sexual arousal, orgasm, and pleasure. Women with sexual dysfunction should be appropriately counseled and treated.

Comparison of sexual activity and life satisfaction in women with intended and unintended pregnancies

Comparison of sexual activity and life satisfaction in women with intended and unintended pregnancies

Economic evaluation of brief sex counseling for sexually dysfunctional adolescents

ABSTRACTObjectives: In a randomized controlled trial brief sex counselling (BSC), intensive sexual healthcare (ISH) and no treatment (NT) for adolescents with a sexual dysfunction were compared. The aim of this study was to assess the cost-effectiveness and cost-utility of BSC versus ISH and NT from a societal perspective. Methods: Costs, sexual functioning and quality of life were measured during 6 months. Primary outcome measures were measured with the Female Sexual Functional Index, the International Index of Erectile Function and the utilities reflecting Quality of Life based on the SF-36. Uncertainty was dealt with by using bootstrap replications and sensitivity analyses. Results: Results show that the societal costs were the highest for ISH followed by NT and BSC. The difference in costs between ISH compared to NT and BSC was significant. Furthermore, there were no significant group differences in sexual functioning or quality of life. With respect to the cost-effectiveness and cost-utility, BSC can be considered to be a suitable treatment for adolescents with a sexual dysfunction. Conclusions: Due to the lack of a significant difference in clinical effect, it can be concluded that BSC is the cheapest treatment option when implementing the intention-to-treat, besides a no treatment option, for adolescents with a sexual dysfunction.

Effect of menses on standardized assessment of sexual dysfunction among women with uterine fibroids: a cohort study

To determine if assessment of sexual dysfunction by the Female Sexual Function Index (FSFI) is related to whether the FSFI is administered during or between menses, in women with symptomatic uterine fibroids. Prospective cohort. Academic medical centers. Premenopausal women who had symptomatic uterine fibroids and were enrolled in fibroid treatment trials. Administration of FSFI during and between menses. Mean FSFI scores in each of 6 domains, and a discordance score to report individual differences in assessment. Thirty-three women completed the FSFI, during menstruation, and at a time in their cycle when they were not menstruating. The mean FSFI scores for each domain did not differ based on when in the menstrual cycle the instrument was administered. However, on an individual level, nearly half of the women reported sexual dysfunction differently during menses than between menses. Of those that reported differences, the pain and desire domains improved; the lubrication and satisfaction domains worsened during menses. Although the mean values of the domain scores were not different, women did report differences in sexual functioning during vs. between menses. Timing of the questionnaire in relation to menses should be considered in sexual-dysfunction assessment for women with uterine fibroids. NCT00995878.

Depressive symptoms, pain, and sexual dysfunction over the first year following vaginal or cesarean delivery: A prospective longitudinal study

BackgroundChildbirth has a significant impact on maternal health, and the high rate of cesarean delivery is a global health concern. Few studies have used validated measures to explore depression, pain, and sexual dysfunction following vaginal or cesarean delivery over a prolonged time period. ObjectiveWe examined the associations between vaginal and cesarean delivery and depressive symptoms, pain, and sexual function during the 1-year postpartum period. DesignA prospective, five-time-point longitudinal study. SettingMaternity unit at a medical center. ParticipantsA total of 351 of 736 women completed a questionnaire that described demographic characteristics, depressive symptoms, and pain levels at 3–5 days postpartum, and updated personal data, depressive symptoms, pain levels, and sexual function at 4–6 weeks and at 3, 6, and 12 months after delivery. MethodsDifferences between the vaginal and cesarean groups in depressive symptoms, pain, and sexual function and trends of changes in these factors over the first postpartum year were examined. ResultsCompared with the vaginal birth group, the cesarean birth group had a significantly higher prevalence of depressive symptoms at 3 months (p=0.03); higher scores for non-localized pain at 3–5 days (p<0.001), 4–6 weeks (p=0.03), and 3 months (p=0.046); higher scores for abdominal pain at 3–5 days (p<0.001), 4–6 weeks (p<0.001), and 6 months (p=0.01); lower perineal pain scores at 3–5 days (p <0.001); and higher sexual desire scores (p=0.04) but lower sexual satisfaction scores (p=0.02) at 4–6 weeks. Differences between the vaginal and cesarean groups were significant (p=0.01, p=0.049, respectively) in terms of the decrease in non-localized pain from 3–5 days to 4–6 weeks postpartum and the increase in sexual desire from 4–6 weeks to 3 months postpartum. ConclusionsCesarean delivery was associated with an increased prevalence of depressive symptoms at 3 months and higher pain levels that persisted at 6 months postpartum in Taiwan. We found no difference in sexual function between vaginal and cesarean delivery after 6 weeks postpartum, and no differences in the trends related to depressive symptoms or in sexual functioning (except for desire) within 1 year postpartum.

Sexual Function in Patients Operated on for Bladder Exstrophy and Epispadias

Bladder exstrophy and epispadias complex is a rare congenital malformation that may have detrimental effects on sexual function. We evaluated sexual function of patients with bladder exstrophy and epispadias complex using validated questionnaires and compared the results with age matched controls. Patients with bladder exstrophy and epispadias complex treated between 1956 and 1992 were identified from our hospital operative database. A total of 63 patients were mailed questionnaires up to 3 times, resulting in 32 replies (51%). Men were mailed the International Index of Erectile Function-15 questionnaire and women were mailed the Female Sexual Function Index questionnaire, and all patients were asked auxiliary questions regarding children, satisfaction with external genitalia and urinary continence. There were no differences in sexual function between sexually active men with bladder exstrophy and epispadias complex and age matched controls on different erectile function domain scores according to the International Index of Erectile Function-15 questionnaire. The Female Sexual Function Index questionnaire among women yielded comparable results on different domain scores, except for median total score, which was higher in patients (33.6, IQR 29.4 to 34.9) than in controls (30.1, IQR 26.4 to 32.4, p = 0.049), suggesting better sexual function in patients with bladder exstrophy and epispadias complex. A greater proportion of patients with bladder exstrophy and epispadias complex had not become sexually active, compared to controls (35% vs 11%, p = 0.008). Patients with bladder exstrophy and epispadias complex were less likely to have children than controls (22% vs 45%, p = 0.021). Men and women with bladder exstrophy and epispadias complex had good long-term outcomes on erectile and general sexual function tests. However, there is a likelihood that these individuals start their sexual life later than the general population, and fewer have children compared to controls.

Factors affecting sexual function: A comparison between women with gynecological or rectal cancer and healthy controls.

This study had two purposes: (i) to explore differences in sexual function between women with gynecological or rectal cancer after related pelvic-area treatments and women without cancer; and (ii) to investigate the relationships among body image, anxiety and depression, sexual relationship power, sexual self-schema, and female sexual function. The participants (n = 139) were recruited through Internet cancer support groups and women's health organizations in the USA. Six structured questionnaires were mailed, and the data were analyzed using descriptive and inferential statistics. The results showed that women with gynecological or rectal cancer had significantly worse sexual function than women without cancer. Having gynecological/rectal cancer and a negative sexual self-schema were significantly related to poor sexual function. Furthermore, sexual self-schema moderated the relationship between sexual relationship power and female sexual function. Healthcare providers could give more attention to sexual issues in women who have undergone treatment for gynecological or rectal cancer, especially for those with a negative sexual self-schema and high sexual relationship power, which might improve these women's quality of life.

Sexuality in adolescent boys with autism spectrum disorder: self-reported behaviours and attitudes.

Differences in sexual functioning of adolescents with and without autism spectrum disorder (ASD) are understudied. In the current study, self-reported sexual behaviours, interests and attitudes of 50 adolescent boys, aged 15-18, with at least average intelligence and diagnosed with ASD, were compared with a matched general population control group of 90 boys. Results demonstrated substantial similarity between the groups in terms of sexual behaviours. The only significant difference was that boys with ASD reacted more tolerant towards homosexuality compared to the control group. Results reveal that sexuality is a normative part of adolescent development in high-functioning boys with ASD. Hence, attention should be given to this topic in education and mental health care.

Sexual functioning in women after mastectomy versus breast conserving therapy for early-stage breast cancer: A prospective controlled study

IntroductionBreast cancer (BC) and/or its treatments may affect sexual functioning based on physiological and psychosocial mechanisms. The aim of this study was to prospectively investigate sexual adjustment of BC patients during a follow-up period of one year after mastectomy (ME) or breast conserving therapy (BCT). MethodsIn this prospective controlled study, women with BC and an age-matched control group of healthy women completed the Beck Depression Inventory Scale, World Health Organization 5 Well-being scale, Body Image Scale, EORTC QLQ questionnaire, Dyadic Adjustment Scale, Short Sexual Functioning Scale and Specific Sexual Problems Questionnaire to assess various aspects of sexual and psychosocial functioning before surgery, six months and one year after surgical treatment. ResultsIn total, 149 women with BC and 149 age-matched healthy controls completed the survey. Compared to the situation before surgery, significantly more BCT women reported problems with sexual arousal six months after surgery and significantly more women of the ME group reported problems with sexual desire, arousal and the ability to achieve an orgasm six months and one year after surgery. While in comparison with healthy controls, no significant differences in sexual functioning were found after BCT surgery, significantly more women who underwent ME reported problems with sexual desire, arousal, the ability to achieve an orgasm and intensity of the orgasm. ConclusionsAlthough little differences were seen in sexual functioning in the BCT group during prospective analyses and in comparison with healthy controls, analyses revealed that women who underwent a ME were at risk for post-operative sexual dysfunctions.

Postoperative bladder and sexual function in patients undergoing surgery for rectal cancer: a systematic review and meta-analysis of laparoscopic versus open resection of rectal cancer.

There have been conflicting opinions regarding the superiority of open and laparoscopic surgery in preserving bladder and sexual function after rectal cancer surgery. This systematic review and meta-analysis aims to pool the available data comparing the impact of surgical approaches on postoperative sexual and urinary function. A search of Pubmed, Medline, Cochrane and Embase was undertaken and studies from January 2000 to February 2013 were identified. We included, in our meta-analysis, both prospective and retrospective studies that compared laparoscopic surgery and open surgery for rectal cancer. A total of 876 patients undergoing rectal cancer surgery (lap n = 468, open n = 408) were examined. In men, postoperative ejaculatory function and erectile dysfunction evaluated from two studies comprising of 74 patients showed no difference between groups. The rate of overall sexual dysfunction evaluated from five studies comprising of 289 patients revealed a rate of 34 % in both the open and lap groups. Postoperative urinary function evaluated from five studies comprising of 312 patients showed no difference between groups. In women, postoperative sexual and urinary function were evaluated from five studies comprising of 321 patients. Three studies (n = 219) reported no difference in sexual function between groups. Postoperative urinary function evaluated from four studies comprising of 212 patients was found to be comparable. The available data are limited, but suggest that neither form of surgical approach be it laparoscopy or open surgery demonstrate superiority in preservation of sexual and bladder function. Further research into the technical aspects of surgery and evaluating newer minimally invasive technologies such as the robot may prove to be useful in improving functional outcomes of rectal cancer patients.

Sexual Function and Body Image are Similar after Laparoscopy‐Assisted and Open Ileal Pouch–Anal Anastomosis

Ileal pouch-anal anastomosis (IPAA) is performed in patients with ulcerative colitis and familial adenomatous polyposis where the majority of patients are sexually active. Laparoscopic surgery is becoming the preferred technique for most colorectal interventions, and we examined postoperative sexual function and body image compared to those after open surgery IPAA. Patients treated with IPAA in the period from October 2008 to March 2012 were included. Evaluation of sexual function, body image, and quality of life was performed using the Female Sexual Function Index (FSFI), the International Index of Erectile Function (IIEF), the Body Image Questionnaire (BIQ), and the Short Inflammatory Bowel Disease Questionnaire (SIBDQ). We included 72 patients (38 laparoscopy-assisted and 34 open). Response rate was 74 %. There were no differences in demographics, functional outcome, quality of life (SIBDQ score: 53 vs. 53), or time of follow-up (637 vs. 803 days). All women and men showed scores above the cutoff line of normal sexual function. There was no significant difference in sexual function between the laparoscopic and open groups. We found no differences in BIQ between open and laparoscopic IPAA; however, there was a tendency toward lower postoperative self-esteem among women compared to men (p = 0.07). We also found a tendency toward a better body image among laparoscopy-treated women compared to open-treated women (p = 0.07). Although there might be a tendency toward better body image among laparoscopy-treated women, the two surgical techniques seem equal with respect to postoperative sexual function.

Cognitive Aspects of Sexual Functioning: Differences Between East Asian-Canadian and Euro-Canadian Women

The purpose of this study was to investigate the sexual beliefs of female undergraduates, as well as the thoughts they experience during sexual experiences. The study aimed to determine potential differences in these variables between East Asian-Canadians and Euro-Canadians, as well as the influence of acculturation on these variables. In addition, the relationships between sexual beliefs, automatic thoughts, and specific aspects of sexual functioning were examined. Euro-Canadian (n = 77) and East Asian-Canadian (n = 123) undergraduate women completed the Sexual Dysfunctional Beliefs Questionnaire, the Sexual Modes Questionnaire, the Female Sexual Function Index, and the Vancouver Index of Acculturation. East Asian women endorsed almost all sexual beliefs assessed in this study more than did Euro-Canadian women, and endorsement of these beliefs was associated with acculturation. In addition, East Asian-Canadian and Euro-Canadian women differed in the frequency of experiencing negative automatic thoughts. Results also revealed associations between difficulties in sexual functioning, and both sexual beliefs and automatic thoughts. Together, these results provide preliminary support for the hypothesis that differences in cognitive aspects of sexuality may underlie the differences in sexual functioning previously observed between these two groups.

Lower urinary tract functions in a series of Charcot-Marie-Tooth neuropathy patients

To evaluate lower urinary tract (LUT), bowel, and sexual dysfunctions in a series of patients with Charcot-Marie-Tooth disease (CMT). A cohort of 58 patients and 54 healthy controls filled out the International Prostate Symptoms Score (IPSS) and the International Consultation on Incontinence Modular (ICIQ) Questionnaires to assess their symptoms and their impact on the patient's quality of life. On the IPSS questionnaire, CMT patients reported a significantly higher score compared with the healthy controls in 7 of 8 questions. The ICIQ-male LUT symptoms questionnaire revealed a significantly higher score in 7 of 26 questions. In the ICIQ-female LUT questionnaire, a significantly higher score was observed in 13 of 24 questions. When assessing the bowel function in CMT patients using the ICIQ-bowel questionnaire, a significantly higher score in 30 of 40 questions was noted. No differences in sexual function were found in either group. The occurrence of the LUT symptoms and bowel dysfunctions in CMT patients was significantly higher when compared with an age-matched control group. The symptoms were more frequent in female patients. The findings suggest that autonomic dysfunction should be evaluated and included in the diagnostic approach and care of CMT patients.

Pilot Study of Younger and Older HIV-Infected Adults Using Traditional and Novel Functional Assessments

Objectives: Emerging data suggest that HIV disease and its treatment affect the aging process. Accurate and reliable measures of functional status are needed to investigate this further. Design: A pilot study in groups of younger and older HIV-infected adults using objective measures of function. Methods: Evaluations included neuropsychological testing, grip strength, balance assessed by the Wii Balance Board, and actigraphy. Surveys were used for depression, fatigue, loneliness, self-reported activity level, and sexual function. Two-samplet test or Wilcoxon rank sum tests were used for continuous variables and exact chi-square tests were used for comparison between groups. Results: Twenty-one participants were 20 to 40 years old (younger; mean age, 31.5), and 20 were more than 50 years old (older; mean age, 56.5). There was no difference between groups for depression, fatigue, or loneliness. Overall, there was a trend to lower scores in the older age group for neuropsychologicalz score (P = .11) and for verbal learning (P = .09). Functioning in the memory domain was significantly lower in older subjects (P = .007). There was no difference in executive function, speed of processing, memory, motor skills, or total activity. Gender differences in sexual function were observed. Four older and 3 younger participants met the definition of frailty. Total activity by actigraphy did not correlate well with self-reported activity. Conclusions: Objective tests were well accepted and feasible to perform, although not all are suitable for widespread clinical or research use. Objective measurements of activity did not correlate well with patient self-report, which has implications for future studies in this area.

Long-Term Functional Outcomes Following Nonradiated Vesicovaginal Repair

We investigated the long-term impact on bladder and sexual symptoms in women with prior vesicovaginal fistula repair, particularly those previously treated before referral. After receiving institutional review board approval we reviewed the charts of women who underwent nonradiated vesicovaginal fistula repair for demographics, surgical approach (vaginal or abdominal) and functional outcomes with a minimum 6-month followup. Patients lost to followup were reached by a structured phone interview and/or mailed validated lower urinary tract questionnaires, including the UDI-6 (Urogenital Distress Inventory-6), IIQ-7 (Incontinence Impact Questionnaire-7) and FSFI (Female Sexual Function Index). Three surgical groups were compared, including naïve-no prior repair, recurrent-1 prior repair and other-more than 2 repairs with the hypothesis of worse outcomes with more repairs. From 1996 to 2011 vesicovaginal fistula repair was performed in 66 patients, including in 42 as primary treatment (vaginal vs abdominal approach in 31 vs 11), in 14 as secondary treatment, and in 10 who underwent more than 2 repairs. Mean patient age was 45 years (range 24 to 87), mean body mass index was 29 kg/m(2) (range 19 to 43) and mean followup was 55 months (range 6 to 198). The overall repair success rate was 97%. There was no difference in functional outcomes in questionnaire responders among the 3 groups for lower urinary tract symptoms (62% on UDI-6/IIQ-7). However, for FSFI (33% of patients) there was female sexual dysfunction in patients who underwent transabdominal repair and in women with 2 repairs. Long-term followup of patients with vesicovaginal fistula repair indicated no differences in lower urinary tract outcomes at a mean 7-year followup between primary and recurrent repairs. There was a difference in sexual function, although it was not statistically significant. Sexual activity among responders was low.

Quality of life in patients of carcinoma cervix treated with chemoradiotherapy: A prospective study.

e16545 Background: The standard of care in locally advanced carcinoma cervix is concurrent chemoradiotherapy. The aim of the study is to prospectively assess quality of life (QoL) in patients of carcinoma cervix treated with chemoradiotherapy. Methods: Between June 2011 and June 2012, 20 patients of carcinoma cervix were included in the study. All patients received conformal external beam radiotherapy (EBRT) on Linear accelerator to a total dose of 50Gy, 2 Gy per fraction, 25 fractions to the pelvis and intracavitary brachytherapy by High dose rate brachytherapy, 7 Gy per fraction, 3 fractions to a total dose of 21 Gy. Patients received concurrent chemotherapy with Cisplatin 40 mg/m2 weekly for five weeks. QoL was assessed using EORTC QLQ-C30 and QLQ-C24 questionnaires at baseline and at six months following completion of treatment. The collected data was analyzed using standard statistical software package (SPSS version 20.0). Results: Median age of the patients in the study was 52years ( range 34 – 69 years), 13 (65%) patients were stage II and seven (35%) were stage III. Mean duration of treatment is 37 days (range 34- 70 days). Local control rate at six months was 95%. Compliance with completion of QoL scores was high. A statistically significant improvement (p = 0.001) was seen at six months post treatment in Global health score and in function scales like physical function, role function, emotional function, social function and cognitive function. There was a significant improvement in symptom scales of urologic and vaginal symptoms. The difference in sexual function at six months showed a trend towards significance (p = 0.052). Conclusions: Patients of carcinoma cervix have a significant improvement in quality of life following treatment with radiotherapy and chemotherapy.

Minor Hypospadias: The “Tip of the Iceberg” of the Partial Androgen Insensitivity Syndrome

BackgroundAndrogens are critical in male external genital development. Alterations in the androgen sensitivity pathway have been identified in severely undermasculinized boys, and mutations of the androgen receptor gene (AR) are usually found in partial or complete androgen insensitivity syndrome (AIS).ObjectiveThe aim of this study was to determine whether even the most minor forms of isolated hypospadias are associated with AR mutations and thus whether all types of hypospadias warrant molecular analysis of the AR.Materials and MethodsTwo hundred and ninety-two Caucasian children presenting with isolated hypospadias without micropenis or cryptorchidism and 345 controls were included prospectively. Mutational analysis of the AR through direct sequencing (exons 1–8) was performed. In silico and luciferase functional assays were performed for unreported variants.ResultsFive missense mutations of the AR were identified in 9 patients with glandular or penile anterior (n = 5), penile midshaft (n = 2) and penile posterior (n = 2) hypospadias, i.e., 3%: p.Q58L (c.173A>T), 4 cases of p.P392S (c.1174C>T), 2 cases of p.A475V (c.1424C>T), p.D551H (c.1651G>C) and p.Q799E (c.2395C>G). None of these mutations was present in the control group. One mutation has never been reported to date (p.D551H). It was predicted to be damaging based on 6 in silico models, and in vitro functional studies confirmed the lowered transactivation function of the mutated protein. Three mutations have never been reported in patients with genital malformation but only in isolated infertility: p.Q58L, p.P392S, and p.A475V. It is notable that micropenis, a cardinal sign of AIS, was not present in any patient.Conclusion AR mutations may play a role in the cause of isolated hypospadias, even in the most minor forms. Identification of this underlying genetic alteration may be important for proper diagnosis and longer follow-up is necessary to find out if the mutations cause differences in sexual function and fertility later in life.