ESPE Abstracts

Background: Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency is a rare pediatric disorder. The classic form occurs in 1:15,000 births worldwide. Osteogenesis imperfecta is a rare bone disease occurring in 1 in 15,000 to 20,000 births. Cow’s milk allergy (CMA) is of the commonest food allergies in early life. Our case presents the co existence of the abovementioned entities in a patient.

Case report: A newborn female was born at term to consanguineous parents after an uncomplicated pregnancy. The clinical examination revealed atypical external genitalia suggestive to masculinization. The diagnosis of congenital adrenal hyperplasia (CAH) was considered and had to be excluded to prevent acute adrenal crisis. Cortisol levels were low at baseline as were and after ACTH stimulation test. The diagnosis of primary CAH was confirmed with genetic testing, which documented homozygous pR316X/pR316X classic form of CAH due to 21-hydroxylase deficiency with salt loss. Additionally, during the first month of life, the patient was admitted to the emergency department with symptoms of vomiting, bloody diarrhea and electrolyte disturbances. After restoring the electrolyte imbalance and ruled out pyloric stenosis, cow milk intolerance was considered due to family history (father allergic to cow’s milk). The baby was commence to hydrolyzed formula and the symptoms where resolved, thus supporting the diagnosis of cow’s milk allergy. Moreover, due to blue sclera and the family medical history (the father had multiple hospitalizations due to bone fractures and he received osteogenesis imperfecta treatment without ever being genetically tested) a genetic panel for osteogenesis imperfecta was send. It tested positive, disclosing that the patient was heterozygous for COL1A1 c. 903+1G>T, as also her father. The medication on discharge was hydrocortisone, fludrocortisone and sodium chloride, extensively hydrolyzed formula and a high dose of Vitamin D.

Conclusion: This coexistence of three conditions in one patient is rare and emphasizes the need for vigilant clinical assessment. Future research could explore the possible interplay between the three conditions and their effect on the patient’s outcome. A multidisciplinary approach - involving in our patient endocrinologists, gastroenterologists, bone expert and geneticists- is essential for managing patients with rare and complex conditions.