Hypogonadotropic Hypogonadism and Type 1 Diabetes Mellitus in a Girl with Normal Karyotype

Virú-Loza M.A. · Revista Cubana de Pediatria (2025)

Resumen

Introduction: It is rare to find simultaneous presence of type 1 diabetes mellitus in girls with hypogonadotropic hypogonadism. Differential diagnoses for diseases that present with both disorders include Turner syndrome, Woodhouse-Sakati syndrome, recurrent 17q12 deletion syndrome, disorders of sexual differentiation, autoimmune polyglandular syndrome type 2, and even monogenic obesity. Objective: To discuss the case of a girl with primary amenorrhea secondary to hypogonadotropic hypogonadism, who presented with diabetic ketoacidosis as the onset of type 1 diabetes mellitus. Case report: A 13-year-old female patient was brought to the hospital with a diagnosis of resolved diabetic ketoacidosis (onset of diabetes), amenorrhea, a grade 3 sacral pressure ulcer, and delayed motor and language development. Physical examination revealed no breast development or pubic hair (Tanner Stage 1), and the patient had a short cervix. Blood measurements of cortisol, LH, FSH, estradiol, TSH, free T4, prolactin, and PTH were also performed, leading to the conclusion that the patient had hypogonadotropic hypogonadism. A normal karyotype result (46, XX) was also obtained. Further testing was not possible due to the patient's failure to attend her appointment after discharge. Conclusions: Given the association of primary amenorrhea due to hypogonadotropic hypogonadism and type 1 diabetes mellitus, the possibility of syndromic conditions should be considered, and genetic testing should be performed. In countries like Peru, access to genetic testing should be facilitated.

Instituciones: Universidad San Ignacio de Loyola