RESUMEN
PURPOSE: Mixed gonadal dysgenesis is a difference of sex development that is often confused with other conditions. Individuals have a 45,X/46,XY karyotype. Gonads are characterized by a streak gonad and a dysgenetic testis at varying levels of descent. Persistent Müllerian structures are typical (eg, hemi-uterus). There is significant phenotypic heterogeneity of the internal and external genitalia that, together with different interpretations of the definition, have contributed to a poor understanding of the condition among pediatric urologists. Mixed gonadal dysgenesis is one manifestation of the 45,X/46,XY karyotype. 45,X/46,XY mosaicism can also be associated with typical female or male external genitalia. This review aims to clarify the mixed gonadal dysgenesis definition and to provide urologists with diagnostic and management considerations for affected individuals. MATERIALS AND METHODS: We searched 3 medical databases for articles related to mixed gonadal dysgenesis. Two hundred eighty-seven full-text abstracts and manuscripts were reviewed for content pertinent to: (1) clarifying the definition of mixed gonadal dysgenesis, and (2) describing the following related to the care of affected individuals: prenatal and neonatal evaluation and management, genital surgery, gonadal malignancy risk and management, fertility, gender dysphoria/incongruence, puberty and long-term outcomes, systemic comorbidities, and transitional care. RESULTS: Fifty articles were included. Key points and implications for each of the above topics were summarized. CONCLUSIONS: Mixed gonadal dysgenesis exists on a wide phenotypic spectrum and management considerations reflect this heterogeneity. Care for individuals with mixed gonadal dysgenesis is complex, and decisions should be made in a multidisciplinary setting with psychological support.
RESUMEN
Purpose: The objective of this study is to determine the prevalence of certain autoimmune diseases in transgender and gender diverse (TGD) youth. Methods: A multicenter, retrospective analysis was conducted from January 2013 to January 2019 of youth ≤26 years of age with concurrent diagnoses of gender dysphoria (GD) and at least one of the studied autoimmune diseases. Prevalence rates were calculated and compared to previously reported rates. Statistical significance was determined using second generation p-values as pooled estimates of prevalence rates across study sites compared to a range of rates reported in the literature. Results: During the study period, 128 of 3812 (3.4%) youth evaluated for GD had a concurrent diagnosis of at least one of the studied autoimmune diseases. Three autoimmune diseases had prevalence rates significantly higher than those previously documented in the literature (second generation p-value=0.000): type 1 diabetes mellitus (112.8/10,000, 95% confidence interval [CI]: 83.8-151.8), systemic lupus erythematosus (13.1/10,000, 95% CI: 5.5-31.5), and Graves' disease (12.3/10,000, 95% CI: 4.0-38.4). Conclusion: There is an increased prevalence of certain autoimmune diseases in youth who identify as TGD presenting for subspecialty care. Limitations such as retrospective study design, selection bias, and reliance on electronic medical records make it difficult to draw wide-reaching conclusions about these findings. This study highlights the need for more research to delineate the impacts of unrecognized or untreated GD on autoimmune disease development and control.
RESUMEN
Context: Treatment for transmasculine youth (TMY) can involve testosterone treatment and is sometimes preceded by gonadotropin-releasing hormone agonist (GnRHa) treatment for puberty blockade. GnRHas can increase final height in birth-assigned females with central precocious puberty. Maximizing final adult height (FAH) is an important outcome for many TMY. Objective: Our objective was to determine how GnRHa treatment before testosterone impacts FAH. Methods: Retrospective cohort study at 5 US transgender health clinics. Participants were 32 TMY treated with GnRHas in early to midpuberty before testosterone (GnRHa + T group) and 62 late/postpubertal TMY treated with testosterone only (T-only group). Results: The difference between FAH minus midparental target height (MPTH) was +2.3 ± 5.7â cm and -2.2 ± 5.6â cm in the GnRHa + T and T-only groups, respectively (P < .01). In the GnRHa + T group, FAH was 1.8 ± 3.4â cm greater than predicted adult height (PAH) (P < .05) and FAH vs initial height (IH) z-score was 0.5 ± 1.2 vs 0.16 ± 1.0 (P < .05). After adjusting for patient characteristics, each additional month of GnRHa monotherapy increased FAH by 0.59â cm (95% CI 0.31, 0.9â cm), stage 3 breast development at start of GnRHa was associated with 6.5â cm lower FAH compared with stage 2 (95% CI -10.43, -2.55), and FAH was 7.95â cm greater in the GnRHa + T group than in T-only group (95% CI -10.85, -5.06). Conclusion: Treatment with GnRHa in TMY in early puberty before testosterone increases FAH compared with MPTH, PAH, IH, and TMY who only received testosterone in late/postpuberty. TMY considering GnRHas should be counseled that GnRHas may mildly increase their FAH if started early.
RESUMEN
Differences of sex development (DSD) encompass a broad range of conditions in which the development of chromosomal, gonadal, or anatomic sex is not typically male or female. Terms used to describe DSD are controversial, and continuously evolving. An individualized, multidisciplinary approach is key to both the diagnosis and management of DSD. Recent advances in DSD care include expanded genetic testing options, a more nuanced approach to gonadal management, and an emphasis on shared decision-making, particularly related to external genital surgical procedures. The timing of DSD surgery is currently being questioned and debated in both medical and advocacy/activism spheres.