Albright's hereditary osteodystrophy includes an heterogeneous group of genetic diseases, including the pseudohypoparathyroidism type Ia and pseudo-pseudohypoparathyroidism. Features of this disease are: round faces, over-weight, subcutaneous calcifications and brachydactylia. Pseudohypoparathyroidism type Ia is associated with laboratory abnormalities such as hypocalcemia, and hyperphosphatemia due to parathormone resistance. Furthermore, these patients may present peripheral resistance to other hormones, such as gonadotrophins and thyroids. Pseudo-pseudohypoparathyroidism has no peripheral resistance to these hormones. We present three patients evaluated in our hospital with clinical manifestations of Albright's syndrome.
机构:
Great Ormond St Hosp Children, Clin & Mol Genet Unit, London WC1N 3JH, EnglandGreat Ormond St Hosp Children, Clin & Mol Genet Unit, London WC1N 3JH, England
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Okayama Univ, Grad Sch Med Dent & Pharmaceut Sci, Dept Gen Med, Kita Ku, 2-5-1 Shikata Cho, Okayama 7008558, JapanOkayama Univ, Grad Sch Med Dent & Pharmaceut Sci, Dept Gen Med, Kita Ku, 2-5-1 Shikata Cho, Okayama 7008558, Japan
机构:
Department of Pediatrics, Maulana Azad Medical College, Lok Nayak Hospital, New Delhi
M-439, Paschim ViharDepartment of Pediatrics, Maulana Azad Medical College, Lok Nayak Hospital, New Delhi
Kapoor S.
Gogia S.
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Department of Pediatrics, Maulana Azad Medical College, Lok Nayak Hospital, New DelhiDepartment of Pediatrics, Maulana Azad Medical College, Lok Nayak Hospital, New Delhi
Gogia S.
Paul R.
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Department of Pediatrics, Maulana Azad Medical College, Lok Nayak Hospital, New DelhiDepartment of Pediatrics, Maulana Azad Medical College, Lok Nayak Hospital, New Delhi
Paul R.
Banerjee S.
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Department of Pediatrics, Maulana Azad Medical College, Lok Nayak Hospital, New DelhiDepartment of Pediatrics, Maulana Azad Medical College, Lok Nayak Hospital, New Delhi