Today, we’re talking about Albright’s Hereditary Osteodystrophy (AHO)—a rare genetic condition that affects how the body grows and responds to certain hormones.
Dr. Roshan Daniel (MBBS, MD, DM Medical Genetics), one of India’s leading experts in genetics, has helped many families understand and manage AHO. Early diagnosis and proper care can help children with AHO grow better and live healthier lives.
What is Albright’s Hereditary Osteodystrophy (AHO)?
Albright’s Hereditary Osteodystrophy (AHO) is a condition where the body doesn’t use certain hormones properly, especially the one that controls calcium levels and bone growth.
It happens because of a mistake (mutation) in the GNAS gene. This gene helps the body respond to a hormone called parathyroid hormone (PTH), which controls how much calcium and phosphate are in the blood.
When this gene doesn’t work properly, the body struggles to manage calcium and phosphate levels. This leads to:
•Weak or short bones
•Low calcium levels (which can cause muscle cramps)
•High phosphate levels
•Poor growth
💡 Symptoms usually start in early childhood.
Types of Albright’s Hereditary Osteodystrophy
There are two types of AHO:
1. Pseudohypoparathyroidism (PHP)
•The body makes enough parathyroid hormone (PTH), but it doesn’t work properly.
•This leads to low calcium and high phosphate levels in the blood.
2. Pseudopseudohypoparathyroidism (PPHP)
•The body responds normally to PTH, but the person still has physical signs of AHO, like short height and short fingers.
Common Symptoms of AHO
AHO symptoms can be mild in some cases and more serious in others.
Physical Signs:
✔ Short height
✔ Round face
✔ Short fingers and toes
✔ Weak or soft bones
✔ Obesity (in some cases)
Hormone-Related Signs:
✔ Low calcium levels (causing muscle cramps and twitching)
✔ High phosphate levels
✔ Slow growth and delayed puberty
✔ Poor thyroid and growth hormone levels
Other Signs:
✔ Learning difficulties (in some cases)
✔ Dental problems (weak teeth, tooth decay)
💡 Symptoms usually appear in early childhood and may get worse over time if not treated.
Dr. Roshan Daniel’s Experience with AHO
In his practice, Dr. Roshan Daniel has seen many different cases of AHO. Some children have mild symptoms, while others face more serious issues.
✅ Low Calcium and Muscle Cramps – Some babies are diagnosed after showing signs of muscle twitching and cramping caused by low calcium.
✅ Short Fingers and Toes – This is a common sign seen in most cases of AHO.
✅ Delayed Growth and Puberty – Some children grow slowly or hit puberty late because their hormones aren’t working properly.
✅ Family History – Sometimes, a parent or other family member also has mild signs of AHO.
✅ Mosaic Cases – In some cases, only a few cells in the body carry the mutation (this is called mosaicism). Recently, Dr. Roshan diagnosed a mosaic case where prenatal testing showed that the baby was unaffected.
💡 Starting treatment early helps prevent serious problems and improves growth.
How is AHO Diagnosed?
Doctors use different tests to confirm AHO.
Diagnosis Steps:
✔ Physical Exam – The doctor checks for short fingers, round face, and other signs.
✔ Blood Tests – These check calcium, phosphate, and parathyroid hormone (PTH) levels.
✔ X-rays – These show weak or short bones.
✔ Genetic Testing – This looks for changes in the GNAS gene to confirm AHO.
✔ Family History – If a parent or sibling has AHO, other family members may need to be tested.
Mosaic Cases:
In some cases, only some cells carry the gene mutation (mosaicism). This makes symptoms milder or even absent. Genetic testing can help confirm this.
💡 Cost of Testing (as of February 2025):
✔ Blood Tests: ₹2,000 – ₹5,000
✔ Genetic Test: ₹15,000 – ₹20,000
✔ Results in 2 to 3 weeks
How is AHO Treated?
There is no cure for AHO, but treatment helps control symptoms and improve health.
Treatment Options:
🔹 Calcium and Vitamin D Supplements – Helps keep calcium levels normal and strengthens bones.
🔹 Phosphate Binders – Reduces high phosphate levels in the blood.
🔹 Hormone Therapy – Growth hormones or thyroid hormones may be needed if hormone levels are low.
🔹 Physical Therapy – Strengthens muscles and improves balance.
🔹 Braces or Surgery – Helps correct bone deformities in severe cases.
🔹 Weight Management – Helps prevent obesity and related health issues.
💡 With proper treatment, most children with AHO grow and develop well.
FAQs on Albright’s Hereditary Osteodystrophy
💡 What causes AHO?
AHO is caused by a change (mutation) in the GNAS gene. This gene helps control how the body responds to certain hormones, especially parathyroid hormone (PTH).
💡 Is AHO inherited?
Yes. AHO is passed down from parents to children. If one parent has AHO, there is a 50% chance that the child will have it too.
💡 What is Mosaicism?
Mosaicism means that only some cells in the body carry the gene mutation. Symptoms may be milder or even absent.
💡 Dr. Roshan Daniel recently treated a mosaic case where the baby tested normal after prenatal testing.
💡 Can AHO be diagnosed before symptoms appear?
Yes. Genetic testing can confirm AHO even before symptoms start.
✔ If someone in your family has AHO, other family members should consider testing.
✔ Early diagnosis helps with better treatment and planning.
💡 Can AHO be diagnosed before birth?
Yes. If a parent has AHO, prenatal testing (amniocentesis or CVS) can check if the baby has inherited the condition.
💡 Cost of Prenatal Testing: ₹35,000 (as of February 2025)
💡 Can people with AHO live normal lives?
Yes! With proper care, most people with AHO can lead normal, healthy lives.
✔ Calcium and vitamin supplements help prevent muscle problems.
✔ Hormone therapy supports normal growth and development.
✔ Physical therapy improves strength and flexibility.
💡 What happens if AHO is not treated?
Without treatment, AHO can lead to:
✔ Muscle cramps and twitching from low calcium
✔ Poor growth and short height
✔ Bone deformities and joint problems
💡 Starting treatment early prevents these issues.
💡 Can AHO happen in future pregnancies?
Yes. If one parent has AHO, there is a 50% chance of passing it to a child.
✔ Prenatal testing (₹35,000) can check if a baby has AHO.
✔ IVF with Preimplantation Genetic Diagnosis (PGD) can help ensure only healthy embryos are implanted.
Genetic Testing and Counselling for AHO
At KIMSHealth, Trivandrum, under the leadership of Dr. Roshan Daniel, we offer:
✔ Blood and hormone tests to confirm AHO
✔ Genetic testing for GNAS mutations
✔ Calcium and hormone therapy plans
✔ Family screening and genetic counselling
✔ Online consultations for remote patients
If you or a family member has short height, bone issues, or calcium problems, early diagnosis and treatment can make a big difference.
Join Us in Spreading Awareness!
AHO can be managed with early diagnosis and proper care. Spreading awareness about symptoms, genetic testing, and treatment can help families live healthier lives.
📢 No disease is too rare to care. Contact Dr. Roshan Daniel at KIMSHealth today for expert advice on genetic testing, counselling, and AHO care! 💙