Management of 46,XY Differences/Disorders of Sex Development (DSD) Throughout Life

Abstract Differences/disorders of sex development (DSD) are a heterogeneous group of congenital conditions that result in discordance between an individual’s sex chromosomes, gonads, and/or anatomic sex. Advances in the clinical care of patients and families affected by 46,XY DSD have been achieved since publication of the original Consensus meeting in 2006. The aims of this paper are to review what is known about morbidity and mortality, diagnostic tools and timing, sex of rearing, endocrine and surgical treatment, fertility and sexual function, and quality of life in people with 46,XY DSD. The role for interdisciplinary health care teams, importance of establishing a molecular diagnosis, and need for research collaborations using patient registries to better understand long-term outcomes of specific medical and surgical interventions are acknowledged and accepted. Topics that require further study include prevalence and incidence, understanding morbidity and mortality as these relate to specific etiologies underlying 46,XY DSD, appropriate and optimal options for genitoplasty, long-term quality of life, sexual function, involvement with intimate partners, and optimizing fertility potential.

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Multidisciplinary Management of Disorders of Sex Development in Indonesia, A Prototype in Developing Country

Journal of Biomedicine and Translational Research ◽

10.14710/jbtr.v3i1.1209 ◽

2017 ◽

Vol 3 (1) ◽

pp. 17 ◽

Cited By ~ 1

Author(s):

Nurin Aisyiyah Listyasari ◽

Ardy Santosa ◽

Achmad Zulfa Juniarto ◽

Sultana MH Faradz

Keyword(s):

Quality Of Life ◽

Disorders Of Sex Development ◽

Multidisciplinary Management ◽

Improve Quality ◽

Gender Assignment ◽

Androgen Excess ◽

Comprehensive Management ◽

Sex Development ◽

Management Protocol

Background : Disorder of sex development (DSD) patients require comprehensive management to improve quality of life. A standardized management protocol for patients in Indonesia is not yet available resulting in patients infrequently received a proper diagnosis. This study reported a multidisciplinary management DSD in Indonesia based on minimal diagnostic facilities and expertise in developing country.Objectives : The purpose of the study is to review the management of DSD patients in Indonesia relates to providing appropriate gender assignment and to improving patients quality of life.Methodology : We analyzed the records of DSD patient admitted to the division of Human Genetics Center for Biomedical Research (CEBIOR) Faculty of Medicine Diponegoro University, Semarang, Indonesia from May 2004 - December 2015. Data were collected and analyzed for physical examination, family pedigree karyotyping, hormonal assays and psychosocial. Other examination such as ultrasonography, Xray and Cytoscopy were also recorded for selected cases. Bimonthly, Sexual Adjustment Team (SAT) meeting was recorded.Results : From the total 617 DSD cases we found 426 cases (69,04 %) with 46, XY DSD, 117 cases (18,96%) with 46,XX DSD and 74 cases (12%) with sex chromosome DSD. Most of the patients in the group of 46, XY DSD are Unknown Male Undervirilization (UMU) with 256 cases (60.09%). As the majority cases of 46, XX DSD was Congenital Adrenal Hyperplasia with 81 cases (69.23%). The remaining cases were Androgen Action Disorder (AAD) with 140 cases (32.86%), 46, XY DSD Gonadal Dysgenesis with 30 cases (7.04%), Androgen Excess Disorders with 3 cases (2.56%), Defect of Mullerian Development with 19 cases (16,24%), 3 cases (2.56%) of Androgen Excess and 3 cases (2.56%) of 46, XX Gonadal Dysgenesis.Conclusion : Comprehensive management for DSD Patients help patient in diagnosis, gender assignment and support patient to improve quality of life. This multidisciplinary of DSD team is the only team in Indonesia that can be used as a model for other center in Indonesia as well as other developing countries with minimal diagnostic facilities.

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Health-related quality of life and long-term morbidity and mortality in patients hospitalised with systolic heart failure

JRSM Cardiovascular Disease ◽

10.1177/2048004014548735 ◽

2014 ◽

Vol 3 ◽

pp. 204800401454873 ◽

Cited By ~ 4

Author(s):

Jenny Berg ◽

Peter Lindgren ◽

Thomas Kahan ◽

Owe Schill ◽

Hans Persson ◽

...

Keyword(s):

Quality Of Life ◽

Heart Failure ◽

Systolic Heart Failure ◽

Morbidity And Mortality ◽

Health Related Quality ◽

Related Quality ◽

Health Related

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Effects of long-term treatment with Dienogest on the quality of life and sexual function of women affected by endometriosis-associated pelvic pain

Journal of Pain Research ◽

10.2147/jpr.s207599 ◽

2019 ◽

Vol Volume 12 ◽

pp. 2371-2378 ◽

Cited By ~ 13

Author(s):

Salvatore Caruso ◽

Marco Iraci ◽

Stefano Cianci ◽

Salvatore Giovanni Vitale ◽

Valentina Fava ◽

...

Keyword(s):

Quality Of Life ◽

Sexual Function ◽

Pelvic Pain ◽

Term Treatment ◽

Long Term Treatment

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Quality of Life in Children with Disorders of Sex Development

Hormone Research in Paediatrics ◽

10.1159/000478780 ◽

2017 ◽

Vol 88 (5) ◽

pp. 324-330 ◽

Cited By ~ 3

Author(s):

Nalini M Selveindran ◽

Syed Zulkifli Syed Zakaria ◽

Muhammad Yazid Jalaludin ◽

Rahmah Rasat

Keyword(s):

Quality Of Life ◽

Family Income ◽

Disorders Of Sex Development ◽

School Functioning ◽

Control Group ◽

Evidence Based Treatment ◽

Sex Development ◽

Longitudinal Outcome ◽

And Gender

Background/Aims: Disorders of sex development (DSD) are a heterogeneous group of rare conditions. Evidence-based treatment is challenged by a lack of clinical longitudinal outcome studies. We sought to investigate the quality of life of children with DSD other than congenital adrenal hyperplasia. Methods: The participants (aged 6–18 years) were 23 patients raised as males and 7 patients raised as females. Control data were obtained from representatives of the patients’ siblings matched for age and gender. The Pediatric Quality of Life InventoryTM Version 4.0 (PedsQL) Generic Core Scales were used as the study tool. Results: In comparison with the reference data, the patient group had significantly lower overall PedsQL (p < 0.01) and school functioning (p < 0.01) scores. Also, the total PedsQL score was significantly lower in patients with DSD who were of female social sex as compared to the controls who were females. Family income, surgical procedures, degree of virilization, and mode of puberty did not influence the PedsQL scores. Conclusion: This study revealed a poorer quality of life for patients with DSD as compared to the age-matched control group. This highlights the need for a skilled multidisciplinary team to manage this group of patients.

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Life after cervical cancer: Sexual function and quality of life in long-term survivors of carcinoma uterine cervix among Indian women.

Journal of Clinical Oncology ◽

10.1200/jco.2014.32.15_suppl.e16503 ◽

2014 ◽

Vol 32 (15_suppl) ◽

pp. e16503-e16503

Author(s):

Abhishek Shankar ◽

Jaineet Patil ◽

Kavita Mandrelle ◽

Anil Luther

Keyword(s):

Quality Of Life ◽

Cervical Cancer ◽

Sexual Function ◽

Uterine Cervix ◽

Indian Women ◽

Long Term Survivors

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Long-term androgen deprivation therapy (ADT) with leuprorelin and quality of life in patients with advanced prostate cancer (PCa).

Journal of Clinical Oncology ◽

10.1200/jco.2017.35.6_suppl.268 ◽

2017 ◽

Vol 35 (6_suppl) ◽

pp. 268-268

Author(s):

Peter Hammerer ◽

Lukas Manka ◽

Manfred Wirth

Keyword(s):

Quality Of Life ◽

Sexual Function ◽

Sexual Activity ◽

Androgen Deprivation ◽

Term Therapy ◽

Control Group ◽

Long Term Treatment ◽

Hormone Sensitive

268 Background: LHRH analogs are the gold standard for treatment of patients with hormone-sensitive advanced PCa. In this study, we investigated the quality of life (QoL) of PCa patients under long-term treatment with leuprorelin acetate in microcapsules (1, 3, and 6 month depot formulation) for up to 19.8 years. Methods: Observational and retrospective analysis of data from 536 PCa patients treated with leuproreline and 116 patients of a control group (CG, ≥ 77 years of age, > 5 years urological treatment, no cancer, no ADT). Data was collected in 30 German office based urological practices using EORTC questionnaires QLQ-C30 and QLQ-PR25. Results: Mean treatment duration was 8.6 years (range: 4.5 - 19.8 years). Mean age ± SD of PCa patients (79.6 ± 6.3 years) was comparable to CG (80.5 ± 3.1 years), as were body height, weight, BMI, and Karnofsky-Index (88.0 ± 12.7 vs. 88.4 ± 12.0). The general health status (QLQ-C30) was comparable for PCa patients vs. CG: 64.6 ± 20.5 vs. 66.8 ± 20.3; p = 0.3117. Marginal differences were observed regarding physical functioning (73.2 ± 23.1 vs. 78.1 ± 21.0; p = 0.0402) and role functioning (70.6 ± 30.4 vs. 74.4 ± 25.7; p = 0.1648). PCa patients rated fatigue (33.6 ± 25.1 vs. 28.8 ± 23.3; p = 0.0629), dyspnoea (24.0 ± 28.5 vs. 19.6 ± 26.9; p = 0.1307), and insomnia (28.9 ± 32.6 vs. 23.7 ± 27.2; p = 0.0751) slightly worse than CG. As assessed by QLQ-PR25, PCa patients scored lower on sexual activity (12.0 ± 20.6 vs. 23.7 ± 25.7; p < 0.0001) and sexual function (43.3 ± 25.8 vs. 55.9 ± 27.0; p = 0.0067) compared to CG. PCa patients had less urinary tract symptoms (28.2 ± 19.8 vs. 31.2 ± 19.2; p = 0.1472) but stronger symptoms of androgen deprivation (21.4 ± 17.3 vs. 10.8 ± 13.2; p < 0.0001), and they had a higher need of incontinence aids (29.6 ± 34.2 vs. 16.7 ± 20.5; p = 0.0056) – however, 136 of the 536 PCa patients had a prostatectomy. Conclusions: In this study, PCa patients treated with leuprorelin for up to 19.8 years (8.6 years on average) had an overall QoL comparable to an age-matched control group. As expected, sexual activity and sexual function were lower in PCa patients under ADT. Overall, treatment with leuprorelin is a well-tolerated long-term therapy for patients with hormone-sensitive advanced PCa. Clinical trial information: ENA E005(a) / DE-N-LEU-019(a).

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Comparison of sexual function and quality of life after pelvic trauma with and without Angioembolization

Burns & Trauma ◽

10.1186/s41038-015-0022-8 ◽

2015 ◽

Vol 3 ◽

pp. 1-6 ◽

Cited By ~ 1

Author(s):

Naeem Goussous ◽

Mark D. Sawyer ◽

Lisa-Ann Wuersmer ◽

Marianne Huebner ◽

Molly L. Osborn ◽

...

Keyword(s):

Quality Of Life ◽

Injury Severity Score ◽

Sexual Function ◽

Severity Score ◽

Injury Severity ◽

Pelvic Fractures ◽

Entire Cohort ◽

National Norms

Abstract Background The aim is to study the safety of Angioembolization on long-term sexual function and quality of life. Methods IRB approval was gained to review the prospectively collected trauma database as well as prospective questionnaires of patients at least 1 year out from pelvic fractures that occurred between 1996 and 2009. Surveys included the SF36v2, Female Sexual Function Index and the International Index of Erectile Function. Values for each domain were compared between patients treated with AE and 2:1 case-matched control patients as well as between the national norms. Values are presented as percentages or means with 95 % CI. P < 0.05 was considered statistically significant. Results Thirty Seven cases and 74 matched controls were identified. 42 patients completed the survey. There were 13 cases (12 males), and 29 controls (22 males). There was a higher ISS (Injury Severity Score) (32 vs 27; p = 0.048) in the cases, but no difference in pelvic AIS (Abbreviated Injury Severity Score) (3 vs 3). Both groups scored similarly in the SF36 in all domains, but the entire cohort scored lower than the national norms in the physical functioning (41.9 (37.8–46.0) vs50), role physical (40.9 (36.2–45.7) vs50), body pain 43.8 (40.7–46.9) vs50), role emotional 46.3 (42.8–49.8) vs50), and physical composite score (42.1 (38.0–46.3) vs50). All domains of the sexual function in both questionnaires showed significant impairment in our cohort compared with norms. Male cases had similar scores to the controls. Conclusion Pelvic fractures portend a worse long-term QOL and sexual function than the general population. AE, however, does not have an additive affect to these indices.

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