Risk of gonadal neoplasia in patients with disorders/differences of sex development

Słowikowska-Hilczer, Jolanta; Szarras‐Czapnik, Maria; Duranteau, Lise; Rapp, Marion; Walczak-Jędrzejowska, Renata; Marchlewska, Katarzyna; Oszukowska, Elżbieta; Nordenström, Anna

doi:10.1016/j.canep.2020.101800

Cited by 25 publications

(20 citation statements)

References 38 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Gonadectomy was primarily performed in individuals with GD because of the risk of germ cell neoplasia. The risk of neoplasia was previously reported to be 14% in XY DSD, 23% in partial GD and in 8% in mixed GD, none in PAIS or KS in our cohort [23]. It remains unknown whether more insight into the motivations behind performing (early) gonadectomy to prevent tumour development would positively influence scrotal/testicular body image at follow-up.…”

Section: Discussionmentioning

confidence: 70%

“…Masculinizing surgery was common in men with non‐KS DSD (83%, 93/112) and at an early age, while men with KS underwent surgery to a lesser extent (27%), and had predominantly testicular and breast surgery as adults. Gonadectomy was mainly performed in males with partial/mixed GD, probably because of the risk of malignancy [ 23 ], as well as in participants with KS after puberty. Müllerian duct remnants were seldom removed in men with PAIS, as compared with those with partial/mixed GD (75%).…”

Section: Discussionmentioning

confidence: 99%

See 1 more Smart Citation

Masculinizing surgery in disorders/differences of sex development: clinician‐ and participant‐evaluated appearance and function

et al. 2021

Self Cite

View full text Add to dashboard Cite

T.C.G. and M.R. contributed equally to this work as first authors. Trial registration: Trial registry name: Klinische europ€ aische Studie zu Langzeitergebnissen chirurgischer und hormoneller und psychologische Behandlung von Patienten mit St€ orungen der Geschlechtsentwicklung (DSD). Registration identification number: DRKS00006072 (German Clinical Trials Register); URL: http://drks-neu.uniklinik-freiburg.de/drks_web/navigate.do?navigationId=trial. HTML&TRIAL_ID=DRKS00006072. *The dsd-LIFE group members are listed in Appendix 1. ObjectivesTo report the long-term follow-up outcomes of masculinizing surgery in disorders/differences of sex development (DSD), including both physicians' and patients' perspectives on appearance and functional outcome, including sexuality. Patients and MethodsIn total, 1040 adolescents (age ≥16 years) and adults with a DSD took part in this multicentre cross-sectional clinical study in six European countries in 2014/2015. Of those, 150 living in other than the female gender had some kind of masculinizing surgery: hypospadias repair, orchidopexy, breast reduction and/or gonadectomy. The study protocol included medical data collection, an optional genital examination, and patient-reported outcomes including satisfaction with appearance and current sexual functioning. ResultsDiagnoses included partial and mixed gonadal dysgenesis (45,XO/46,XY; n = 38), Klinefelter syndrome/46,XX males (n = 57), and various 46,XY DSDs (n = 42; e.g. partial androgen insensitivity syndrome, severe hypospadias) and 13 with other diagnoses. Of the participants, 84 underwent hypospadias surgery, 86 orchidopexy, 52 gonadectomy and 32 breast reduction (combinations possible). Physicians evaluated anatomical appearance at genital examination as poor in approximately 11% of patients. After hypospadias surgery, 38% of participants reported that they were (very) dissatisfied with anatomical appearance and 20% with function. The physician and patient evaluations were moderately correlated (r = 0.43). ConclusionThe majority of participants were neutral to satisfied with the appearance and function in the long-term after masculinizing surgery. Given the initial severe phenotype and a risk of unsatisfactory results after masculinizing surgery in DSD, treatment should be handled by experienced multidisciplinary teams in order to optimize the postoperative results.

show abstract

Section: Discussionmentioning

confidence: 70%

Section: Discussionmentioning

confidence: 99%

Masculinizing surgery in disorders/differences of sex development: clinician‐ and participant‐evaluated appearance and function

et al. 2021

Self Cite

View full text Add to dashboard Cite

show abstract

“…In a comprehensive 2017 study of individuals with PAIS and genetically con rmed AR variants, pre-germ cell neoplasia in situ (pre-GCNIS) was found in only 1 of 17 testis samples from 10 post-pubertal individuals (6 male, 4 female) aged 14-54 years, and no invasive neoplasia was detected [23]. Similarly, no neoplasia was found in 24 testes of 35 individuals with a clinical diagnosis of PAIS (not molecularly con rmed) in the 2020 European dsd-LIFE study [27]. Thus, from these 2 recent PAIS studies pre-GCNIS was found in only 1 of 41 testes (<3%) of post-pubertal individuals and no invasive neoplasia was detected.…”

Section: Discussionmentioning

confidence: 97%

Pubertal And Gonadal Outcomes In 46,XY Individuals With Partial Androgen Insensitivity Syndrome Raised As Girls

Guaragna‐Filho

Guerra‐Júnior

Tadokoro-Cuccaro

et al. 2021

Preprint

View full text Add to dashboard Cite

Purpose: Although it was common in the 1970s-1990s to assign female gender of rearing to 46,XY infants with limited virilisation of varying etiologies, including those with partial androgen insensitivity syndrome (PAIS), long-term data on outcomes for these individuals are sparse. Therefore, our goal was to use the power of an international registry to evaluate clinical features, surgical management and pubertal data in patients with a molecularly confirmed diagnosis of PAIS who were born before 2008 and were raised as girls. Methods: The current study interrogated the I-DSD Registry for available data on management and pubertal outcomes in individuals with genetically confirmed PAIS who were raised as girls. Results: Among the 11 individuals who fulfilled the key criteria for inclusion the external masculinization score at presentation (EMS) ranged from 2 to 6 (median 5); 7 girls underwent gonadectomy before the age of 9 years, whereas 4 underwent gonadectomy in the teenage years (≥ age 13). Clitoral enlargement at puberty was reported for 3 girls (27%) who presented initially at the time of puberty with intact gonads. In the 9 individuals (82%) for whom gonadal pathology data were provided, there was no evidence of germ cell tumor at median age of 8.1 years. All girls received estrogen replacement and 8/11 had attained Tanner stage 4-5 breast development at last assessment. Conclusion: In general, although it appears that female assignment in PAIS is becoming uncommon, our data provide no evidence to support the practice of prophylactic prepubertal gonadectomy with respect to the risk of a germ cell tumour.

show abstract

“…In adolescence and adulthood, both subgroups are likely to live with the knowledge of the incongruence of their female role with their sexual karyotype, gonads, gonadal hormones (if produced at all), and possibly internal reproductive structures; in addition, pregnancy and childbirth are usually not possible. A further complication is the variable risk of gonadal malignancy development in such patients, which may lead to gonadectomy regardless of gender assignment [47]. It is not surprising therefore that such patients may have developed a private gender identity that is more nuanced, e.g., a variant of "nonbinary," than female in the usual sense [48,49].…”

Section: Discussionmentioning

confidence: 99%

The Timing of Genital Surgery in Somatic Intersexuality: Surveys of Patients’ Preferences

Meyer‐Bahlburg¹

2022

Horm Res Paediatr

View full text Add to dashboard Cite

In recent years, intersex advocates, medical ethicists, and lawmakers have increasingly demanded a delay of genital surgery that is not acutely medically necessary in patients with somatic intersexuality to the age of consent. This study provides a review of published surveys of affected patients’ own opinions on this issue. In part with a search of PubMed 2000-2021, ten pertinent surveys of patients were identified: three from the U.S., four from European countries, and one each from Brazil, China, and Malaysia. All were based on samples of clinic patients, most of whom had previously undergone genital surgery. The majority of both XX and XY patients with somatic intersexuality favored early surgery, with somewhat more syndrome-specific variability in XY patients. The available survey data clearly indicate that a mandatory delay of genital surgery in all patients with somatic intersexuality to the age of consent would disregard the wishes of the majority of surveyed patients. A syndrome- and syndrome-severity-specific individualized approach to surgery decisions appears more appropriate.

show abstract

Risk of gonadal neoplasia in patients with disorders/differences of sex development

Cited by 25 publications

References 38 publications

Masculinizing surgery in disorders/differences of sex development: clinician‐ and participant‐evaluated appearance and function

Masculinizing surgery in disorders/differences of sex development: clinician‐ and participant‐evaluated appearance and function

Pubertal And Gonadal Outcomes In 46,XY Individuals With Partial Androgen Insensitivity Syndrome Raised As Girls

The Timing of Genital Surgery in Somatic Intersexuality: Surveys of Patients’ Preferences

Contact Info

Product

Resources

About