, also known as Muscular pseudohypertrophy – hypothyroidism
or Hoffman syndrome
is a rare disorder characterized by pseudohypertrophy (increased muscle size, but not related to strength) which is thought to be due to prolonged thyroid hormone deficiency, hypothyroidism, which is sometimes present at birth (please also visit: congenital hypothyroidism.
). This syndrome can present between infancy and 10 years of age with symptoms typical of hypothyroidism including: decreased activity, increased sleep, difficulty eating, constipation, yellow colored skin (jaundice), unusually large tongue (macroglossia), and low muscle tone (hypotonia). The pseudohypertrophy of the muscles most commonly affects the muscles of the arms and legs but can also involve the trunk (back, abdomen), hands and feet. Diagnosis can be based on physical examination findings as well as blood tests for thyroid hormone levels. In regions such as the United States and many other countries, most babies are tested for congenital hypothyroidism through newborn screening. Treatment involves medications to regulate thyroid hormone levels and symptoms of this disorder can often be reversed. Talk with a specialist if you or your child has been diagnosed with Kocher-Debre-Semelaigne syndrome.