Late Diagnosis of Congenital Hypothyroidism in Young Adult.

Late Diagnosis of Congenital Hypothyroidism in Young Adult. Acta Med Indones. 2019 Jul;51(3):272-274 Authors: Pramono LA, Yuwono A Abstract Congenital hypothyroidism is the most treatable cause of mental retardation. It is also the most prevalent congenital endocrine disorder in childhood. A dramatic improvement can be made by early detection, diagnosis, and adequate treatment of levothyroxine in patients with congenital hypothyroidism. Severe cognitive impairment is associated with persistent disease in patients who have delayed or no treatment at all. In a modern era with complete healthcare facilities in a big city like Jakarta, the prevalence late-diagnosed congenital hypothyroidism is supposed to be very low. Since many districts have their own public healthcare facilities to screen and diagnose congenital hypothyroidism in children at very young age, a delayed diagnosis in adulthood is actually a rare case.In this medical illustration, we report a case of 21 year-old woman who came to our hospital with abdominal pain. She had mental retardation with no capability to communicate well with other person. She had a short stature (her height was less than 1 meter). She also had mongoloid face with big lips and a very big tongue. There was no goiter or lump on her neck. Her motoric performance was very weak and frail. During abdominal examination, we could see an umbilical bulging on her abdominal wall and on palpation, we could feel an umbilical hernia. ...
Source: Acta medica Indonesiana - Category: Internal Medicine Tags: Acta Med Indones Source Type: research

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Source: Scandinavian Cardiovascular Journal - Category: Cardiology Tags: Scand Cardiovasc J Source Type: research
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