45,X/46,XY mosaicism: Clinical manifestations and long term follow-up.

45,X/46,XY chromosomal mosaicism presents a range of clinical manifestations, including phenotypes from Turner syndrome through genital abnormalities to apparently unaffected phenotypic males; however, the full clinical spectrum has not yet been fully delineated since prior studies on the clinical phenotype and associated risk of gonadal tumors included small cohorts and limited follow-up. To better describe the clinical manifestations and long-term outcome of patients with 45,X/46,XY mosaicism. We conducted a retrospective chart review of patients with 45,X/46,XY from three health centers (Hospital for Sick Children and Mount Sinai Hospital in Canada, and University of Pittsburgh Medical Center in United States). Of 100 patients with 45,X/46,XY karyotype, 47 were raised as females and 53 as males. Females were significantly shorter than males (p = 0.04) and height Z-score was significantly decreased with age for both genders (p = 0.02). Growth hormone (GH) treatment did not result in a significant height increase compared to the untreated group (p = 0.5). All females required puberty induction in contrast to majority of males. Five females were diagnosed with gonadal tumors, while no males were affected. Around 58% of patients exhibited at least one Turner syndrome stigmata. This study expands the clinical spectrum, long-term outcomes, and associated tumor risk in a large cohort of patients with 45,X/46,XY mosaicism. Additionally, it highlights our experience with GH therapy and prophylactic gonadectomy.

Expected vs. perceived effects of gender-affirming hormone therapy among transmasculine adolescents.

OBJECTIVES: Gender-affirming testosterone therapy is increasingly prescribed among transmasculine adolescents and has been associated with improved mental health outcomes. However, expected and perceived effects of testosterone have not previously been compared in this population. METHODS: We compared desired and reported effects of testosterone in all consecutive transmasculine adolescents followed at a large interdisciplinary gender diversity clinic in North America. Participants received a prescription for testosterone and were first seen between November 2016 and May 2021. Our study was a retrospective audit of case notes. We collected self-reported desired effects prior to initiation of testosterone and self-reported perceived effects from participants' medical records up to 24 months after initiation. The masculinizing effects of testosterone considered in our study were increased body/facial hair, voice deepening/Adam's apple growth, increased muscle mass, clitoromegaly, and body fat redistribution. RESULTS: There were 76 participants included in this study. Mean age at prescription of testosterone was 16.31 years (standard deviation: 0.99 years). The effects desired by the greatest proportion of participants prior to initiation were increased body/facial hair (69 %) and voice deepening/Adam's apple growth (52 %). These same two effects were the most reported by participants, reaching 80 % report rates at 12 months, and increasing steadily across the 24-month follow-up period. CONCLUSIONS: Our study shows that for most, but not all gender diverse adolescents undergoing testosterone therapy, the most expected physical changes were seen in the first year of gender-affirming treatment. More research and provider education are needed to offer optimal counseling for adolescents undergoing gender-affirming hormone therapy.

Social Support and Mental Health Among Transgender and Nonbinary Youth in Quebec.

Purpose: Transgender and nonbinary (TNB) youth face elevated levels of discrimination, stigma, mental health disorders, and suicidality when compared with their cisgender counterparts. Family and school support may mitigate some of the effects of the stressors facing TNB youth. This study aimed to better understand the impact of each of these sources of support on TNB youths' mental health and wellbeing. Methods: We used data collected between 2018 and 2019 as part of the Canadian Trans Youth Health Survey, a bilingual online survey to measure social support, physical health, and mental health in a sample of 220 TNB youth aged 14-25 living in Québec, Canada. We examined the relationships among different sources of support, and mental health and wellbeing outcomes using logistic regression. Analyses were conducted on the full sample and according to linguistic groups (French and English). Results: Participants reported high levels of mental health symptoms, self-harm, and suicidality, and mental health symptoms were higher in the English-speaking group (p = 0.005). In models controlling for age, family connectedness was associated with good/excellent self-reported mental health (odds ratio [OR] = 2.62, p = 0.001) and lower odds of having considered suicide (OR = 0.49, p = 0.003) or attempted suicide (OR = 0.43, p = 0.002), whereas school connectedness was associated with higher odds of good/very good/excellent general (OR = 2.42, p = 0.013) and good/excellent mental (OR = 2.45, p = 0.045) health. Conclusion: Family and school support present consistent associations with TNB youths' health and may constitute key areas for intervention for those supporting them.

School Factors Strongly Impact Transgender and Non-Binary Youths' Well-Being.

BACKGROUND: School plays an important role in transgender and non-binary (TNB) youths' life and well-being. The aim of this study was to gain a better understanding of how the lived experiences, gender affirmation and challenges encountered by TNB youths in the school setting affect their well-being. METHOD: Our study was a qualitative secondary data analysis, based on the interviews of 12 Canadian TNB youths aged 15-17 years old. RESULTS: We found that TNB students' well-being was closely related to the acknowledgment of gender identity at school. Several factors, including school socio-cultural environment, teachers' and peers' attitudes and behaviours, school physical environments and the respect of confidentiality of gender identity were all found to impact TNB students' well-being. To face adversity related to some of these factors, TNB youths used several contextually driven strategies such as compromising, educating, and sensitizing others about gender diversity and avoiding certain people or situations. CONCLUSION: Our results highlight the important influence of school climate and culture, as well as teachers', school personnel's and peers' behaviours and attitudes on TNB youths' well-being. Our findings can guide future interventions to help schools become more inclusive and supportive of gender diversity.

Mental Health and Timing of Gender-Affirming Care.

BACKGROUND: Gender-incongruent (GI) youth have high rates of mental health problems. Although gender-affirming medical care (GAMC) provides psychological benefit, some GI youth present to care at older ages. Whether a relationship exists between age of presentation to GAMC and mental health difficulties warrants study. METHODS: A cross-sectional chart review of patients presenting to GAMC. Subjects were classified a priori as younger presenting youth (YPY) (<15 years of age at presentation) or older presenting youth (OPY) (≥15 years of age). Self-reported rates of mental health problems and medication use were compared between groups. Binary logistic regression analysis was used to identify determinants of mental health problems. Covariates included pubertal stage at presentation, social transition status, and assigned sex. RESULTS: Of 300 youth, there were 116 YPY and 184 OPY. After presentation, more OPY than YPY reported a diagnosis of depression (46% vs 30%), had self-harmed (40% vs 28%), had considered suicide (52% vs 40%), had attempted suicide (17% vs 9%), and required psychoactive medications (36% vs 23%), with all P < .05. After controlling for covariates, late puberty (Tanner stage 4 or 5) was associated with depressive disorders (odds ratio 5.49; 95% confidence interval [CI]: 1.14-26.32) and anxiety disorders (odds ratio 4.18 [95% CI: 1.22-14.49]), whereas older age remained associated only with psychoactive medication use (odd ratio 1.31 [95% CI: 1.05-1.63]). CONCLUSIONS: Late pubertal stage and older age are associated with worse mental health among GI youth presenting to GAMC, suggesting that this group may be particularly vulnerable and in need of appropriate care.

Perspectives on fertility preservation and parenthood among transgender youth and their parents.

OBJECTIVE: The aim of this study was to investigate the views of young people (YP) with gender dysphoria and their parents concerning fertility preservation and reproductive and life priorities. DESIGN: A cross-sectional questionnaire-based study assessed knowledge of potential effects of treatments for gender dysphoria on fertility, current and future life priorities and preferences regarding future fertility/parenting options among YP and parents. RESULTS: A total of 79 YP (81% assigned female at birth [AFAB], 19% assigned male at birth [AMAB], aged 12-18 years, 68% between ages 16 years and 18 years) and 73 parents participated. The top current life priority for YP among eight options was being in good health; the least important priority was having children. Anticipated life priorities 10 years from now were ranked similarly. Parents' rankings paralleled the YP responses; however, parents ranked having children as a significantly higher priority for AFAB compared with AMAB YP in 10 years. The majority of YP (66% AFAB, 67% AMAB) want to be a parent in the future. However, most do not envision having a biological child. A large majority (72% AFAB, 80% AMAB) were open to adoption. None of the YP surveyed pursued fertility preservation. CONCLUSION: Fertility is a low current and future life priority for transgender YP. The majority of YP wish to become parents but are open to alternative strategies for building a family. These data may explain in part the reported low rates of fertility preservation among this population. Further studies are needed to assess if life priorities change over time.

Characteristics of Adolescents Referred to a Gender Clinic: Are Youth Seen Now Different from Those in Initial Reports?

BACKGROUND/AIMS: To examine characteristics, including mental health comorbidities, among adolescents presenting to a transgender clinic and to compare these data to previous reports. METHODS: Retrospective chart review among youth seen at The Hospital for Sick Children between January 2014 and June 2016. Demographic data, clinical characteristics, and mental health comorbidities were assessed. Baseline and repeat blood work were also examined. RESULTS: Charts from 203 adolescents aged 12-18 years were reviewed (156 assigned female at birth [AFAB] (77%) aged 16.3 ± 1.63 years, 47 assigned male at birth [AMAB] aged 16.1 ± 1.70 years). There was no statistically significant difference between gender groups except for Tanner stage (AFAB, mean 4.42 ± 0.8 and AMAB, mean 4.03 ± 1.1, p = 0.040). Individuals from racial/ethnic minority populations were under-represented compared to the background population. Self-report and baseline psychological questionnaires showed high levels of gender dysphoria, mood disorders, and suicidal ideation, with higher levels of anxiety detected on questionnaires among AFAB (p = 0.03). Laboratory abnormalities identified on baseline and repeat testing were minor; on cross-sex hormones, hemoglobin levels increased slightly in AFAB (p = 0.002, highest = 166 g/L) and decreased among AMAB (p = 0.02, lowest = 132 g/L). CONCLUSION: Our study supports an evolving demographic trend with more AFAB than AMAB youth now presenting to gender clinics. The data also corroborate studies indicating that extensive laboratory testing may not be a necessary part of caring for these youths. Why more AFAB are now presenting to clinic and racial/ethnic minorities are underrepresented is not clear, but these trends have important implications for clinical care and warrant further study.

Quality of referral of short children to the paediatric endocrinologist and impact of a fax communication system.

BACKGROUND/OBJECTIVES: In 2001, a chart review of children referred to the authors' endocrine clinic because of short stature revealed that many were referred with insufficient baseline data, had normal height velocity and were within genetic target height. Therefore, a two-way fax communication system was implemented between referring physicians and the authors' service before the first visit. Aspects that were assessed included whether this system increased the information accompanying the patient at referral, resulted in children with nonpathological shortness not being seen in the clinic, and was used differently by paediatricians and general practitioners. STUDY DESIGN: Between January and December 2006, 138 referrals for short stature, diagnosed with familial short stature, constitutional delay or idiopathic short stature, were audited (69 with and 69 without previous fax communication). Data collected included source of referral, clinical information provided, available growth measurements, and results from laboratory and imaging studies. RESULTS: Fax communication resulted in growth curves being provided more often (95.6% of cases versus 40.5% of cases without fax communication [P<0.001]) and more investigations being performed by the referring physician (median [range]: six [zero to 13] investigations versus one [zero to 11]; P<0.001), as well as a diagnosis of nonpathological short stature being given to 31 children based on the growth curve, laboratory and imaging results, without the children being seen in the endocrine clinic. Fax communication was also used more frequently by paediatricians (84%) than by general practitioners (15%). CONCLUSION: The fax communication system resulted in a more complete evaluation of referred patients by their physicians and reduced the number of unnecessary visits to the authors' specialty clinic while promoting medical education.

HISTORIQUE ET OBJECTIFS: En 2001, un examen des dossiers d'enfants aiguillés vers la clinique d'endocrinologie des auteurs en raison de leur petite taille a révélé que bon nombre des aiguillages ne s'accompagnaient pas de données de base suffisantes et que les patients aiguillés présentaient une croissance normale et une taille qui respectait leur cible génétique. C'est pourquoi un système de communication bidirectionnelle par télécopieur a été mis sur pied entre les médecins traitants et le service d'endocrinologie avant le premier rendez-vous. Les auteurs ont évalué si le système permettait d'avoir plus d'information au sujet du patient lors de l'aiguillage, s'il évitait que les patients dont la petite taille n'était pas d'origine pathologique soient vus à la clinique et s'il était utilisé de manière différente par les pédiatres et les omnipraticiens. MÉTHODOLOGIE: De janvier à décembre 2006, les auteurs ont évalué 138 aiguillages en raison d'une petite taille, diagnostiquée comme une petite taille familiale, un retard constitutionnel ou une petite taille idiopathique (69 avec et 69 sans communication antérieure par télécopieur). Les données colligées incluaient la source de l'aiguillage, l'information clinique fournie, les mesures de croissance transmises et les résultats des études de laboratoire et d'imagerie. RÉSULTATS: La communication par télécopieur a permis d'obtenir plus souvent les courbes de croissance (95,6 % des cas plutôt que 40,5 % [P<0,001]) et de faire faire plus d'examens par le médecin traitant (médiane [plage] : six [zéro à 13] examens au lieu d'un [zéro à 11]; P<0,001), ainsi que de poser un diagnostic de petite taille non pathologique chez 38 enfants d'après la courbe de croissance et les résultats de laboratoire et d'imagerie, sans qu'ils soient vus à la clinique d'endocrinologie. Par ailleurs, la communication par télécopieur était plus utilisée par les pédiatres (84 %) que par les omnipraticiens (15 %). CONCLUSION: Le système de communication par télécopieur a donné lieu à une évaluation plus complète des patients aiguillés par leur médecin et réduit le nombre de rendez-vous inutiles à la clinique spécialisée des auteurs, tout en favorisant la formation médicale.