Case: 13.6-year-old boy born to unrelated healthy parents, was admitted to the Psychiatry Department with attention deficit and socialization problems. Following psychiatric assessment, the patient was referred to pediatric endocrinology department for evaluation of possible hypothyroidism. The patient’s mother reported that he was inattentive and asocial. The boy had medical history of mild recurrent numbness in his hands in the past 2 years.
At physical examination, mild facial dysmorphism was noted - prominent nose with a bulbous tip, small mouth and eyes, ocular hypertelorism, and long face, see image attached. Laboratory Investigations: Serum calcium level of 6.6 mg/dL, phosphorus 8 mg/dL, intact parathormone level of 24.9 pg/mL (normal: 10-65), 25-hydroxyvitamin D level of 25 μg/L, and urine calcium/creatinine ratio of 0.01. Thyroid hormone levels were within the reference range.…
