Pseudohypoparathyroidism physical examination

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Pseudohypoparathyroidism Microchapters

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Mazia Fatima, MBBS [2]


Overview

Patients with pseudohypoparathyroidism type1a , type 1c and pseudopseudohypoparathyroidism presents by the second decade of life with characteristic physical features of Albright's hereditary osteodystrophy.Pseudohypoparathyroidism Type 1B isolated resistance to parathyroid hormone without the associated clinical features of Albright's osteodystrophy. Mild brachydactyly is seen in some cases.Blomstrand's chondrodystrophy presents with short limbs due to characteristic growth impairment.Secondary hyperplasia of the parathyroid glands occurs as a result of associated hypocalcemia.

Physical Examination

Appearance of the Patient

  • Patients with pseudohypoparathyroidism type1a , type 1c and pseudopseudohypoparathyroidism presents by the second decade of life with characteristic physical features of Albright's hereditary osteodystrophy.

Skin

Albright's hereditary osteodystrophy: Subcutaneous ossifications, Obesity

HEENT

Acrodysostosis: Small, flat, upturned nose

Blomstrand's chondrodystrophy:

Lungs

Blomstrand's chondrodystrophy:

Narrow thorax,

  • Hydrops fetalis

Abdomen

Blomstrand's chondrodystrophy:Polyhydramnios


Genitourinary

Acrodysostosis: Hypoplastic genitalia, Cryptorchidism


Extremities

Acrodysostosis :Short hands

Blomstrand's chondrodystrophy:

Neuromuscular

Albright's hereditary osteodystrophy: Mild to moderate intellectual disability

References


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