A 15-year-old boy with Albright hereditary osteodystrophy (AHO) is rushed to emergency room with severe muscle cramps and convulsions. The child has a history of mental retardation. Laboratory studies reveal hypocalcemia and elevated blood levels of PTH. Which of the following distinguishes this patient's endocrinopathy from hypoparathyroidism seen in DiGeorge syndrome?
High-Yield Explanation
- Given clinical features suggests the diagnosis of pseudo-hypoparathyroidism. Pseudo-hypoparathyroidism Group of hereditary conditions a/w maternal imprinting in which hypocalcemia is caused by target organ insensitivity to parathyroid hormone. High PTH level is seen by feedback. - Whereas in DiGeorge syndrome, hypocalcemia is d/t decreased PTH levels as a result of absent parathyroid glands - Pseudo-hypoparathyroidism patient's demonstrate characteristic phenotype (Albright Hereditary Osteodystrophy) : Sho stature Obesity Mental retardation Subcutaneous calcification Congenital anomalies of bone - Small 4th & 5th metacarpals - Knuckle-knuckle-Dimple-Dimple sign/ Archibald sign.