Primary amenorrhoea as a manifestation of coeliac disease

• Published in: BMJ case reports Vol. 14; no. 1; p. e239260
• Main Authors: Costa, Sara Todo Bom, Sanmarful, Inês Salas
• Format: Journal Article
• Language: English
• Published: England BMJ Publishing Group LTD 27-01-2021; BMJ Publishing Group
• Subjects: Adolescent; Age; Amenorrhea - etiology; Antibodies; Asymptomatic; Biopsy; Body mass index; Case Report; Case reports; Celiac disease; Celiac Disease - complications; Celiac Disease - diagnosis; Celiac Disease - diet therapy; Chronic illnesses; Diet, Gluten-Free; Disease; Eating disorders; Female; Gluten; Gynecology; Haplotypes; Humans; Iron; Laboratories; Medical diagnosis; Ovaries; Pediatrics; Puberty; Thyroid gland; Ultrasonic imaging; Uterus; Portugal; paediatrics; coeliac disease; endocrinology
• ISSN: 1757-790X; 1757-790X
• DOI: 10.1136/bcr-2020-239260

Coeliac disease is a systemic autoimmune disorder that has a wide range of clinical manifestations that include abdominal pain, diarrhoea, obstipation, weight loss, short stature and even primary amenorrhoea. It can be asymptomatic, which makes it an underdiagnosed disease. We present a case report of a 15-year-old girl who was referred to a paediatric consultation due to primary amenorrhoea. A detailed clinical history revealed poor weight gain. Physical examination showed that secondary sexual characteristics were present and there was a low body mass index. Ultrasonography images and laboratory tests revealed a normal urogenital system and an adequate gonadal function. Coeliac disease antibodies were positive and the diagnosis was confirmed through duodenal biopsy. The symptom resolved with a gluten-free diet. An approach to primary amenorrhoea should always include investigation of a systemic illness as it is a rare but treatable diagnosis.