Agenesia uterina y ovárica. una combinación inusual causante de hipogonadismo hipergonadotropo (HH)

Introduction: Hypergonadotropic Hypogonadism (HH) is the cause of delayed puberty, characterized by an intrinsic gonadal condition that interrupts the action of the hypothalamic-pituitary-gonadal axis. With a varied etiology, including genetic or acquired alterations. The association of uterine and ovarian agenesis in the same patient as the cause of HH is unusual. There are cases described in the HH literature with agenesis, dysgenesis, ovarian hypoplasia, but without uterine alteration. Case description: 12-year-old patient who consults for short stature with absence of pubertal development. Hormonal studies suffering from HH. Pelvic ultrasound and pelvic magnetic resonance imaging are requested, confirming gonadal and uterine agenesis. Management is performed with calcium supplements, estrogens as hormonal replacement to induce secondary sexual characteristics and support in your bone health. Achieve a normal final size according to your average parental size and improvement in your quality of life. Discussion: Short stature and absence of secondary sexual characteristics is a form of clinical presentation of HH. Ovarian agenesis as a cause of HH, associated with uterine agenesis in the same patient, is an unusual association, motivating the publication of the case. Conclusion: It is important to recognize HH early, in order to provide timely treatment, and thus improve quality of life. Introducción: El Hipogonadismo Hipergonadotropo (HH) es causal de pubertad retrasada, caracterizada por afección intrínseca gonadal que interrumpe la acción del eje hipotálamo – hipófisis- gonadal. Con etiología variada, incluyendo alteraciones genéticas o adquiridas. La asociación de agenesia uterina y ovárica en una misma paciente como causa de HH es insusual. Existen casos descritos en la literatura de HH con agenesia, disgenesia, e hipoplasia ovárica, pero sin alteración uterina. Descripción del caso: Paciente de 12 años que consulta por talla baja con ausencia de desarrollo puberal. Estudios hormonales que demuestran HH. Se solicita ecografía pélvica y resonancia magnética de pelvis confirmando agenesia gonadal y uterina. Se realiza manejo con suplementos de calcio, estrógenos como sustitución hormonal para inducir caracteres sexuales secundarios y apoyo en su salud ósea. Logra una talla final normal acorde a su talla medio parental y mejoría de su calidad de vida. Discusión: La talla baja y ausencia de caracteres sexuales secundarios, es una forma de presentación c