Management Challenges of an Infant with Multiple Endocrinopathies with Mc Cune Albright Syndrome: A Case Report
Year: 2024
Type: article
Study design: Case Report
Abstract: Introduction: McCune Albright syndrome (MAS) is a rare genetic disorder characterized by a triad of hyperpigmentation, endocrinopathies, and fibrous dysplasia (FD), caused by post-zygotic somatic mutations. Hyperthyroidism is the second most common endocrinopathy in MAS and poses significant management challenges in infants.Case Description: A 7-month-old girl, born to unrelated parents, presented with vaginal bleeding, breast development, excessive sweating, rapid weight gain, and height acceleration over the past 2-3 months. She had café-au-lait spots, tachycardia, and high blood pressure. She was started on carbimazole following that developed neutropenia, needed temporary cessation of carbimazole. After short course of Lugol’s iodine carbimazole restarted and thyrotoxicosis was successfully managed medically.Conclusion: It is a challenge managing the early onset endocrinopathies. Early-onset hyperthyroidism in MAS often needs surgical intervention by experienced surgeons. This case highlights the successful management of thyrotoxicosis in an infant with high doses of carbimazole, avoiding immediate surgery, though future surgical intervention might still be needed.
Authors: O. Wijalathgedera, J. Suntharesan
Language: English
Subfield: Endocrinology, Diabetes and Metabolism
Field: Medicine
Domain: Health Sciences
Open Access status: diamond
OpenAlex ID: W4402493745