USMLE (Fach) / Endocrine (Lektion)

Vorderseite Pseudohypoparathyroidism type 1A
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Also known as Albright hereditary osteodystrophy.

Unresponsiveness of kidney to PTH → hypocalcemia despite ↑ PTH levels- Due to defective GS protein α-subunit causing end-organ resistance to PTH- Autosomal dominant- Defect must be inherited from mother due to imprinting

↓ Ca2+ despite ↑ PTH levels

Presentation:- Shortened 4th/5th digits- Short stature- Obesity- Developmental delay

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