Patients may present with features of hypocalcaemia including carpo-pedal muscular spasms, cramping, tetany, and if the calcium deficit is severe, generalized seizures. IQ is typically mildly depressed or unaffected. Additional characteristics include short stature, obesity, developmental delay, and calcification of the basal ganglia in the deep white matter of the brain. Type 1a Pseudohypoparathyroidism is clinically manifest by bone resorption with blunting of the fourth and fifth knuckles of the hand, most notable when the dorsum of the hand is viewed in closed fist position. This presentation is known as 'knuckle knuckle dimple dimple' sign (Archibald's sign). This is as opposed to Turner syndrome which is characterized by blunting of only the fourth knuckle, and Down syndrome, which is associated with a hypoplastic middle phalanx. Related conditions The term pseudopseudohypoparathyroidism is used to describe a condition where the individual has the phenotypic appearance of pseudohypoparathyroidism type 1a, but is biochemically normal. Condition Appearance PTH levels Calcitriol Calcium Phosphates Imprinting Hypoparathyroidism Normal Low Low Low High Not applicable Pseudohypoparathyroidism Type 1A Skeletal defects High Low Low High Gene defect from mother (GNAS1) Type 1B Normal High Low Low High Likely a gene defect from mother (GNAS1 and STX16) however it can also be the result of an imprinting issue of (GNAS1) due to mother and father in equal measure Type 2 Normal High Low Low High ? Pseudopseudohypoparathyroidism Skeletal defects Normal Normal Normal Normal gene defect from father
medical cause of Hyperphosphatemia
medical cause of Hypophosphatemia
medical cause of Hyperkalemia
medical cause of Hypercalcaemia
medical cause of Hyperparathyroidism
medical diagnosis of Hyperparathyroidism
complications of Hypophosphatemia
medical cause of Chronic kidney disease