McCune-Albright Syndrome With Unremitting Hyperthyroidism at Early Age: Management Perspective for Early Thyroidectomy

Abstract

Background. McCune-Albright syndrome (MAS) is characterized by hyperpigmented macules, endocrinopathies, and fibrous dysplasia. Hyperthyroidism is the second most common endocrinopathy in MAS and its management is challenging, particularly among infants and toddlers. Traditionally, young infants have been treated with antithyroid medications, but remission is likely and these medications have severe side effects and affect the control of other endocrinopathies. Thus, it is reasonable to consider permanent treatment options at an earlier age. In this article, we performed a retrospective chart review and describe 3 children who underwent thyroidectomy at an early age due to complex presentation. Case Descriptions. Case 1 was a female patient who underwent bilateral adrenalectomy due to adrenal hyperplasia and subsequently underwent thyroidectomy at 5 months of age due to unremitting hyperthyroidism with fibrous dysplasia, multiple fractures, and ovarian cysts with vaginal bleeding. Case 2 was a 20-month-old female on methimazole who acquired influenza A, precipitating a thyroid storm, and subsequently developed central precocious puberty. Case 3 was a 4-year-old female who underwent thyroidectomy because of unremitting hyperthyroidism after methimazole cessation due to declining neutrophils. All 3 children experienced no complications from thyroidectomy. Conclusions. Early thyroidectomy by an experienced surgeon is an option for managing MAS-associated hyperthyroidism, even in very young patients, with excellent results.

Thyroid Surgery in Children: A 5-Year Retrospective Study at a Single Paediatric Surgical Center and Systematic Review

“…A literature review of eighteen articles dealing with thyroid surgery in paediatric population is shown in Table 3 [ 12 , 13 , 14 , 15 , 16 , 17 , 18 , 19 , 20 , 21 , 22 , 23 , 24 , 25 , 26 , 27 , 28 , 29 ]. Most studies (18) included in our literature review were retrospective studies.…”

“…Study period varied from 1 year [ 17 ] to 18 years [ 22 ]. Studies with the most patients were those in which partial or total thyroidectomy was usually performed [ 12 , 13 , 15 , 18 , 19 , 20 , 21 , 22 , 23 , 24 , 25 , 26 , 27 , 28 , 29 ], while fewer patients were included in studies that analysed robotic trans-axillary and retro-auricular approach [ 14 ] or transoral endoscopic thyroidectomy via vestibular approach [ 17 ]. The most common complication in all operations was hypocalcaemia due to incidental parathyroidectomy and recurrent laryngeal nerve injury.…”

“…A recent literature review revealed a small number of published articles focused on paediatric thyroid pathology [ 12 , 13 , 14 , 15 , 16 , 17 , 18 , 19 , 20 , 21 , 22 , 23 , 24 ], especially those produced by paediatric surgeons on their own (singly) [ 12 , 20 , 21 , 24 ] or in cooperation with adult endocrine surgeons [ 18 , 25 ]. In the majority of articles, total thyroidectomy was the dominant surgical procedure, in accordance with the American Thyroid Association and European Thyroid Association guidelines.…”

Hashimoto’s Thyroiditis and Graves’ Disease in Genetic Syndromes in Pediatric Age

“…As with all other manifestations of MAS, the activation of the stimulatory G protein is responsible for thyroid gland hyperplasia, thyroid hormone overproduction and increased conversion from T4 to triiodothyronine (T3). Clinically, this results in hyperthyroidism, goiter and/or thyroid nodules [178]. About 64% of MAS patients with thyroid alterations have nodular goiters, with nodules > 1 cm [176].…”