Investigação de marcadores do cromossomo Y em casos de Síndrome de Turner e Disgenesia Gonadal 46, XX atendidos no Sistema Único de Saúde de Alagoas

Abstract

Introduction: Gonadal Dysgeneses (GD) are classified as Disorders of Sex Development (DSD) and are characterized by impaired development of the gonads. GD can be classified as Complete Gonadal Dysgenesis (CGD), Mixed Gonadal Dysgenesis (MGD), or Partial Gonadal Dysgenesis (PGD). Turner Syndrome (TS), also classified as GD, is characterized by alterations in the X chromosome and is one of the most prevalent syndromes in females. Individuals with GD have a 4-60% risk of developing germ cell tumors due to abnormalities in gonadal organogenesis, which are exacerbated by the presence of the Y chromosome in their chromosomal constitution. Objective: To investigate the presence of Y chromosome markers in cases diagnosed with TS and 46,XX GD treated in the public health system (SUS) of Alagoas. Methods: This is a cross-sectional, observational, and descriptive study, with a sample consisting of individuals with a clinical and cytogenetic diagnosis of TS and 46,XX GD, regardless of age, treated in the SUS of Alagoas between May 2008 and May 2023. For the sample description, medical records with sociodemographic, clinical, and cytogenetic data were analyzed. Molecular investigation of Y chromosome markers was performed through Conventional and nested Polymerase Chain Reaction (PCR). The results were tabulated in an Excel spreadsheet for descriptive analysis. Results: From a sample of 233 DSD cases treated at the Clinical Genetics Service of Professor Alberto Antunes University Hospital (SGC/HUPAA), 12 presented 46,XX GD and 34 presented TS. Of the 46 study participants, 60.87% were from the interior of Alagoas, 32.61% from the capital, and 6.52% had no information on origin. The mean age at the first consultation was 16 years and 10 months, and the main characteristics presented were primary amenorrhea, short stature, and delayed development of secondary sexual characteristics. Clinically, 73.91% of the cases were diagnosed with TS, while 26.09% were diagnosed with 46,XX GD. The presence of Y chromosome markers was observed in 4.35% of the sample. Discussion: According to the literature, about 12% of individuals with TS and 46,XX GD may present Y-specific sequences in their chromosomal constitution, increasing the risk of developing gonadal tumors by 4-60%. In these cases, prophylactic gonadectomy is recommended. Conclusion: Conventional PCR and nested PCR effectively elucidated the presence of Y chromosome markers in 4.35% of the investigated cases. The clinical, cytogenetic, molecular, and sociodemographic descriptions enabled the characterization of TS and 46,XX GD cases in Alagoas. Keywords: Gonadal Development; Turner Syndrome; Y Chromosome; gonadal dysgenesis 46,XX.