Pseudohypoparathyroidism type 1A (PHP1A) – 67 Symptoms, Signs and Prognosis

What is Pseudohypoparathyroidism type 1A (PHP1A)

Pseudohypoparathyroidism type 1A (PHP1a) is a rare hormonal disorder.

This disorder is a type of pseudohypoparathyroidism.

In contrast to hypoparathyroidism, in which the synthesis or secretion of parathyroid hormone (PTH) is impaired or absent, in pseudohypoparathyroidism, target tissues are unresponsiveness to the actions of PTH.

Chronic hypocalcemia in this disorder leads to hyperplastic parathyroid glands and increased levels of PTH.

The etiology of this condition is due to renal resistance to a hormone in the body called parathyroid hormone (PTH).

This process results in hypocalcemia, hyperphosphatemia, and elevated PTH.

There are also other features such as resistance to other hormones including thydroid stimulating hormone (TSH), growth-hormone-releasing hormone (GHRH) and gonadotropins

Pseudohypoparathyroidism type 1A (PHP1a) also termed as Albright hereditary osteodystrophy due to the constellation of clinical features.


  • AHO-PHP syndrome 1a
  • Albright hereditary osteodystrophy-PHP syndrome 1a
  • PHP1A
  • Albright hereditary osteodystrophy with multiple hormone resistance

Symptoms and Signs of Pseudohypoparathyroidism type 1A

A review of contemporary literature describes the Non-classic features of pseudohypoparathyroidism type 1A.

Along with the Albright Hereditary Osteodystrophy phenotype and hormone resistance, patients with PHP1A may have additional skeletal, metabolic, ear-nose-throat and pulmonary complications.

Understanding these non-classic features will help improve clinical care of PHP1A patients.

Mandatory Symptoms and Signs (100% present)

  • Pseudohypoparathyroidism

Very Common Symptoms and Signs (80%-98%)

  • Elevated circulating parathyroid hormone (PTH) levels
  • Hyperphosphatemia
  • Hypocalcemia 
  • Low urinary cyclic AMP response to PTH administration 
  • Pituitary resistance to thyroid hormone 
  • Round face 
  • Short stature 

Common Symptoms and Signs (30%-79%)

  • Basal ganglia calcification 
  • Brachydactyly 
  • Broad 1st metacarpal 
  • Cataract 
  • Choroid plexus calcification 
  • Constrictive median neuropathy 
  • Delayed eruption of teeth 
  • Depressed nasal bridge 
  • Ectopic ossification 
  • Full cheeks 
  • Growth hormone deficiency 
  • Hypoplasia of dental enamel 
  • Increased bone mineral density 
  • Intellectual disability 
  • Nystagmus 
  • Obesity 
  • Polyphagia 
  • Short 4th metacarpal 
  • Short 5th metacarpal 
  • Short fifth metatarsal 
  • Short metacarpal 
  • Short metatarsal 
  • Short neck 
  • Thickened calvaria

Occasional Symptoms and Signs (5%-29%)

  • Abdominal symptom 
  • Abnormal platelet function 
  • Anxiety 
  • Band keratopathy 
  • Broad distal phalanx of the thumb 
  • Calcinosis 
  • Cerebral calcification
  • Chest pain 
  • Choreoathetosis 
  • Confusion 
  • Conjunctivitis 
  • Depressivity 
  • Dyspnea 
  • Hypergonadotropic hypogonadism 
  • Hyperostosis frontalis interna 
  • Hypertension 
  • Hypocalcemic tetany 
  • Hyporeflexia 
  • Involuntary movements 
  • Irritability 
  • Laryngeal dystonia 
  • Muscle spasm 
  • Myoclonic spasms 
  • Oligomenorrhea 
  • Osteoma cutis 
  • Paresthesia 
  • Prolonged QT interval 
  • Reduced bone mineral density 
  • Sensorineural hearing impairment 
  • Short 3rd metacarpal 
  • Spinal cord compression 
  • Strabismus

Rare Symptoms and Signs (4%-1%)\

  • Elevated calcitonin 
  • Hypocalcemic seizures 
  • Prolactin deficiency 

Prognosis of Pseudohypoparathyroidism type 1A – Pseudohypoparathyroidism life expectancy

  • Prognosis is good with timely and proper treatment
  • Due to the features of this disorder such as severe short stature, obesity and subcutaneous ossifications, the Quality of life is considerably affected
  • If the endocrine diseases associated with this condition are correctly treated, than the Life expectancy is pretty normal

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