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Learn About Albright's Hereditary Osteodystrophy

What is the definition of Albright's Hereditary Osteodystrophy?
Albright's hereditary osteodystrophy (AHO) is a rare disorder with a wide range of signs and symptoms, including short stature, obesity, round face, subcutaneous ossifications (formation of bone under the skin), and short fingers and toes (brachydactyly). When the disorder is inherited from the mother, the features of AHO can be associated with resistance to certain hormones, in particular the parathyroid hormone (PTH). This is called pseudohypoparathyroidism type 1a (PHP1a). When inherited from the father, an individual will have AHO without any hormone issues, which is called pseudopseudohypoparathyroidism (PPHP). This condition is inherited in an autosomal dominant manner due to a genetic change in the GNAS gene.
What are the alternative names for Albright's Hereditary Osteodystrophy?
  • Albright's hereditary osteodystrophy
  • Pseudohypoparathyroidism type 1A
  • Pseudopseudohypoparathyroidism
  • AHO
  • Albright hereditary osteodystrophy
  • Pseudohypoparathyroidism with Albright hereditary osteodystrophy
  • Albright hereditary osteodystrophy with multiple hormone resistance
  • PHP1A
  • Albright hereditary osteodystrophy without multiple hormone resistance
  • PPHP
  • Pseudo-Pseudohypoparathyroidism
  • Pseudopseudo-Hypoparathyroidism
Who are the top Albright's Hereditary Osteodystrophy Local Doctors?
Elite in Albright's Hereditary Osteodystrophy
Elite in Albright's Hereditary Osteodystrophy
R. Maestro Cardim 769, Bela Vista, 
Sao Paulo, SP, BR 

Giovanna Mantovani practices in Sao Paulo, Brazil. Ms. Mantovani is rated as an Elite expert by MediFind in the treatment of Albright's Hereditary Osteodystrophy. Her top areas of expertise are Pseudohypoparathyroidism, Albright's Hereditary Osteodystrophy, Progressive Osseous Heteroplasia, Endoscopic Transnasal Transsphenoidal Surgery, and Hormone Replacement Therapy (HRT).

Elite in Albright's Hereditary Osteodystrophy
Elite in Albright's Hereditary Osteodystrophy
Milan, IT 

Francesca Elli practices in Milan, Italy. Ms. Elli is rated as an Elite expert by MediFind in the treatment of Albright's Hereditary Osteodystrophy. Her top areas of expertise are Albright's Hereditary Osteodystrophy, Pseudohypoparathyroidism, Progressive Osseous Heteroplasia, Acrodysostosis, and Kidney Transplant.

 
 
 
 
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Elite in Albright's Hereditary Osteodystrophy
Pediatrics | Nephrology | Pediatric Endocrinology
Elite in Albright's Hereditary Osteodystrophy
Pediatrics | Nephrology | Pediatric Endocrinology
55 Fruit Street Yaw 6, Pediatric Medicine, 
Boston, MA 
Languages Spoken:
English

Harald Jueppner is a Pediatrics specialist and a Nephrologist in Boston, Massachusetts. Dr. Jueppner is rated as an Elite provider by MediFind in the treatment of Albright's Hereditary Osteodystrophy. His top areas of expertise are Pseudohypoparathyroidism, Albright's Hereditary Osteodystrophy, Nephrocalcinosis, Milk-Alkali Syndrome, and Kidney Transplant.

What are the latest Albright's Hereditary Osteodystrophy Clinical Trials?
Natural History Study of Parathyroid Disorders

Background: Parathyroid disorders are very common in the general population and include disorders of parathyroid excess, deficiency, or defects in parathyroid hormone (PTH) signaling. PTH, the main secretory product of parathyroid glands is responsible for regulation of calcium-phosphate homeostasis.

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Natural History Study of Albright Hereditary Osteodystrophy: Includes Substudies on Effects of Growth Hormone in Patients With Pseudohypoparathyroidism Type 1A and Cognitive & Behavioral Studies in Albright Hereditary Osteodystrophy

Summary: We, the researchers, are following the natural history of Albright hereditary osteodystrophy. We have found that growth hormone deficiency is very common in patients with pseudohypoparathyroidism type 1A, which falls under the broader condition termed Albright hereditary osteodystrophy. Patients with pseudohypoparathyroidism type 1A typically are short and obese. Some of these patients are not sho...

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Published Date: May 02, 2022
Published By: Genetic and Rare Diseases Informnation Center