Skip to main content

PSEUDOHYPOPARATHYROIDISM

PSEUDOHYPOPARATHYROIDISM
Etiology:
• There is tissue resistance to the effects of PTH, so PTH concentrations are markedly elevated
• Type 1 a or Albright's hereditary osteodystrophy (AHO) - GNAS1 mutation is inherited on
the maternal chromosome
 Clinical features:
• Hypocalcemia
• Hyperphosphatemia
• Short fourth/fifth metacarpals and metatarsals with associated Cataract

Comments

Post a Comment

Popular posts from this blog

100 most frequently asked one liners in OPHTHALMOLOGY

1. Strongest attachment of vitreous is - Base 2. Junction between retina & cornea is - Ora serrata 3. Levators of upper eyelid r - levator palpibra sup/Mullers/Frontalis 4. Muscles to close the Eyelid - Orbicularis 5. Celiary muscles constrict - Lens 6. Keratometry is - measurement of curvature of cornea 7. Pachymetry is to measure - thickness of the cornea 8. Refractometer is to measure - Retractive index of lens 9. Refractive error associated i divergent squint - Myopia 10. Cotton wool spots r seen in - T2DM/HTN 11. MC orbital tumour in children - Rhabdomyosarcoma 12. MC Brain tumour in children - Gliomas 13. MC cancer in children - Leukemia (ALL) 14. MC distant metastasis seen in retinoblastoma is - Bone. 15. In Rt.Homonomous hemianopia the MC site of lesion would be - Lt.optic tract 16. Pt has difficulty in walking downstairs probable muscle paralysed - Sup.Obl. 17. Hypopyon is due to - Fungal infection 18. Nummular keratitis is most commonly caused due to - H...
3 comments
Read more

Sensorineural Hearing loss !!

Sensorineural Hearing loss •Sensorineural Hearing loss • Paget's Disease may present with abnormality at upper tibia,Hip and Back pain,Sensorineural Hearing loss,Elevated Alkaline Phosphatase,Ivory Vertebra and Cotton Wool Spots in Skull X Ray. • Basilar Migraine presents with intermittent headache in association with tinnitus,vertigo and hearing loss. • Ramsay Hunt Syndrome may present with facial palsy ,facial pain ,vesicles on the canal and pinna,vertigo and sensor neural hearing loss . • Exposure to noise above 160dB can cause permanent loss of hearing. • The diagnosis of classic alport syndrome is based on X-linked inheritance of hematuria, sensorineural hearing loss, and lenticonus • Psycho-acoustic index of loudness is indicated by the term 'Phon'. • In chidren suffering from meningitis,sensorineural hearing loss may occur despite prompt initiation of appropriate antimicrobial therapy. • Alport Syndrome,Nail-patella syndrome,Pendred's syndrome,Trea...
Post a Comment
Read more

Quick revision - Pathology !!!

1. Congo red staining for amyloid under polarized light shows: Yellow green/ Apple green birefringence 2. Serum marker indicating active viral replication in HBV infection: HBeAg, HBV-DNA 3. Negri bodies are seen in which condition: Rabies 4. Rheumatic fever MC affects Mitral valve 5. Heart failure cells are: Hemosiderin laden alveolar macrophages 6. Biomarker which rises earliest in MI: Myoglobin 7. Flask shaped ulcer are seen in: Amoebic liver abscess 8. Anti-gliadin antibodies are seen in: Celiac disease 9. MC site of gastrinoma: Duodenum 10. In AML, Auer rods are numerous in: M3 11. Increased osmotic fragility is characteristic of: Herediatry spherocytosis 12. Christmas disease is due to deficiency of: Factor IX 13. Adult polycystic kidney is inherited as: Autosomal dominant 14. Community acquired pneumonia is MC caused by: Streptococcus penumoniae 15. Disease caused by cotton inhalation: Byssinosis 16. MC type of lung Ca in non-smokers: Adenocarcinoma 17. Reactiva...
Post a Comment
Read more