Pseudohypoparathyroidism physical examination

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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.

• Pseudohypoparathyroidism Type 1B is not associated with clinical features of Albright's osteodystrophy. Mild brachydactyly is seen in some cases.

Skin

Albright's hereditary osteodystrophy: Subcutaneous ossifications, Obesity

HEENT

Acrodysostosis: Small, flat, upturned nose

Blomstrand's chondrodystrophy:

• Protruding eyes showing cataracts
• Facial anomalies like
  • Macroglossia
  • Micrognathia
  • Depressed nasal bridge
  • Albright's hereditary osteodystrophy: Round face, Frontal bossing, Dental hypoplasia

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:

• Short limbs
• Dwarfism
• Increased bone mineral density and advanced bone maturation in the fetues resulting in neonatal death
• Albright's hereditary osteodystrophy:Shortening of third, fourth, and fifth metacarpals and metatarsals

Neuromuscular

Albright's hereditary osteodystrophy: Mild to moderate intellectual disability

References

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