Primary amenorrhea in a 17-year and 6-month old girl due to celiac disease: A case report

INTRODUCTION: Primary amenorrhea is the absence of the first menarche. There are many causes for primary amenorrhea: gonadal dysgenesis, obstruction of the outflow tract, malformations of the hypothalamus, and the suppression of the hypothalamic pituitary gonadal axis. CASE PRESENTATION: A 17-year and 6-month old girl was referred to our Endocrinology Clinic for the evaluation of primary amenorrhea, short stature and reduced general condition. Other than a lack of appetite, there was no past history of any gastrointestinal symptom. Her body mass index was low. The secondary sexual characteristics were at Stage 5 on Tanner score. On investigation, there was no abnormality concerning uterus and ovaries. Celiac disease antibody was highly positive, and the diagnosis of celiac disease was confirmed by small intestinal biopsies. A gluten-free diet was initiated. 4 months later, the patient reached her first menarche. Celiac disease should be considered among the differential diagnosis of Primary amenorrhea. Conclusion: healthcare providers should be aware of the extra gastrointestinal manifestations of Celiac disease. Serological testing for Celiac disease should be performed for any patient with primary amenorrhea.