AMENORRHEA: RARE ETIOLOGIES AND ITS DIAGNOSTIC COMPLEXITY
ABSTRACT:
Introduction: Amenorrhea can have several etiologies, which are often classified as either primary or secondary. The approach can be complex depending on the etiology, especially when not guided by the epidemiological prevalence. Therefore, it is necessary to establish an algorithm for diagnosis that leads to the main hypotheses, guided by a theoretical review that supports the main etiological suspicion. Methodology: This is a descriptive observational study of the type "Case Report" which information was obtained exclusively through analysis of the medical record, without direct involvement with the patient. In addition, a bibliographic review on the topic (amenorrhea) was carried out to greater theoretical support. Case Description: Female patient, 21 years old, presented with complaint of primary amenorrhea and partial development of secondary sexual characters (M2-3 / P4). She has a family history of consanguinity and infertility. The laboratory exams presented elevated FSH and LH, reduced estradiol and normal karyotype (46, XX). Radiology identified atrophic ovaries and uterine underdevelopment. All other laboratory results were normal. Results and Discussion: In the presence of a primary amenorrhea, hypothalamic-pituitary, ovarian and uterovaginal causes should be investigated. However, in the present case, hypergonadotropic hypogonadism condition (reduced estradiol with increased LH and FSH) already directs the etiological evaluation to the ovarian compartment. Among the causes of primary amenorrhea that are associated with a serum increase in gonadotropins, diagnostic investigation has led to primary ovarian insufficiency (POI). With the evaluation of the POI, the etiological suspicion was reduced to autoimmune and genetic causes. Autoimmunity, although controversial in the literature, was taken into account due to some similarities and the impossibility of its exclusion. Regarding the genetic cause, syndromes such as Turner, Fragile X and Morris were excluded due to the clinical evaluation and the result of the (normal) karyotype. However, a rare etiology deserved particular attention: gonadal dysgenesis due to genetic mutations in patients 46, XX. Literature shows descriptions of genetic mutations in consanguineous families capable of explaining the patient's condition, with very similar clinical presentation. Mutation in some genes involved in meiosis (STAG3, SYCE1) would result in abnormal development of oocytes, while in others (MCM8 and MCM9) it would result in genomic instability associated with hypergonadotrophic hypogonadism in its autosomal recessive forms. The patient's history of family consanguinity and infertility associated with the theoretical support analyzed strengthens the genetic hypothesis as the most probable etiology. Conclusion: In view of the probable etiological diagnosis, considered rare, and the lack of availability of tests to prove them, reviewing other reports of similar cases was an important tool for the diagnostic direction by establishing a parallel with the case reported in this study. Fortunately, even in the face of the impossibility of establishing a definitive diagnosis, the most appropriate therapeutic approach for the patient did not suffer interference, since the treatment of all POI cases is the same, regardless the etiology.
Keywords: amenorrhea; primary ovarian insufficiency; autoimmunity; oophoritis; gonadal dysgenesis, 46,XX; mutation; hypogonadism
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