A Simple Guide to Pseudohypoparathyroidism, Diagnosis, Treatment and Related Conditions

By Kenneth Kee

This book describes Pseudohypoparathyroidism, Diagnosis and Treatment and Related Diseases

Pseudohypoparathyroidism (PHP) is a genetic disorder in which the body fails to respond to parathyroid hormone.

A linked disorder is hypoparathyroidism, in which the body does not make sufficient parathyroid hormone.

The parathyroid glands produce parathyroid hormone (PTH).

PTH helps regulate calcium, phosphorus, and vitamin D levels in the blood and is essential for bone health.

If the patient has PHP, the body produces the right amount of PTH, but is "resistant" to its effect.

This causes low blood calcium levels and high blood phosphate levels.

PHP is caused by abnormal genes.

There are 5 types of pseudohypoparathyroidism:
1. PHP type 1a (PHP-1a),
2. PHP type 1b (PHP-1b
3. PHP type 1c (PHP-1c),
4. PHP type 2 (PHP-2),
5. Pseudopseudohypoparathyroidism (PPHP).

All forms are infrequent and are normally diagnosed in childhood.

PHP type 1a is the most frequent subtype and corresponds to 70% of cases.

1. Type 1a is inherited in an autosomal dominant manner.

That indicates only one parent needs to pass the patient the faulty gene for the patient to have the condition.

It is also termed Albright hereditary osteodystrophy.

The disorder causes short stature, round face, obesity, developmental delay, and short hand bones.

Symptoms depend on whether the patient inherits the gene from the mother or father.

2. Type 1b involves resistance to PTH only in the kidneys.

Type 1b is less well known than type 1a.

Blood Calcium is low, but there are none of the other typical features of Albright hereditary osteodystrophy.

3. Type 2 also affects low blood calcium and high blood phosphate levels.

People with this form do not have the physical traits frequent to people with Type 1a.

The genetic abnormality that produces it is not known.

It is different from Type 1b in how the kidney reacts to high PTH levels.

Symptoms are related to a low level of calcium and are:

1. Cataracts
2. Dental problems
3. Numbness
4. Seizures
5. Tetany (a collection of symptoms including muscle twitches and hand and foot cramps and muscle spasms)

People with Albright hereditary osteodystrophy may have these symptoms:
1. Calcium deposits under the skin
2. Dimples that can replace knuckles on affected fingers
3. Round face and short neck
4. Short hand bones, especially the bone below the 4th finger
5. Short height

1. Blood tests will be done to check calcium, phosphorus, and PTH levels.
2. The patient may also need urine tests.
3. Genetic testing
4. Head MRI or CT scan of the brain

Pseudohypoparathyroidism is indicated by the presence of:
1. Hypocalcemia,
2. Hyperphosphatemia,
3. Normal 25 hydroxyvitamin D and
4. Elevated parathyroid hormone levels

The overall purposes in the treatment of PHP are to maintain normal calcium, normal phosphorus, avoid hypercalciuria, and lower PTH levels to normal if possible.

This is important since raised PTH levels in patients with PHP can cause greater bone remodeling and result in hyperparathyroid bone disease.

The use of oral calcium and 1alpha-hydroxylated vitamin D metabolites, such as calcitriol, is the main treatment and should be started in every patient with a diagnosis of PHP.

Patients with severe symptomatic hypocalcemia should be first treated with intravenous calcium.

In the acute setting, the urgent treatment is for intravenous calcium to be given followed by oral calcium and vitamin D supplements.

TABLE OF CONTENT
Introduction
Chapter 1 Pseudohypoparathyroidism
Chapter 2 Causes
Chapter 3 Symptoms
Chapter 4 Diagnosis
Chapter 5 Treatment
Chapter 6 Prognosis
Chapter 7 Hypoparathyroidism
Chapter 8 Hypocalcemia
Epilogue

• Language: English
• Publisher: Kenneth Kee
• Release date: Aug 24, 2021
• ISBN: 9781005328443

Kenneth Kee

Medical doctor since 1972.Started Kee Clinic in 1974 at 15 Holland Dr #03-102, relocated to 36 Holland Dr #01-10 in 2009.Did my M.Sc (Health Management ) in 1991 and Ph.D (Healthcare Administration) in 1993.Dr Kenneth Kee is still working as a family doctor at the age of 74However he has reduced his consultation hours to 3 hours in the morning and 2 hours inthe afternoon.He first started writing free blogs on medical disorders seen in the clinic in 2007 on http://kennethkee.blogspot.com.His purpose in writing these simple guides was for the health education of his patients which is also his dissertation for his Ph.D (Healthcare Administration). He then wrote an autobiography account of his journey as a medical student to family doctor on his other blog http://afamilydoctorstale.blogspot.comThis autobiography account “A Family Doctor’s Tale” was combined with his early “A Simple Guide to Medical Disorders” into a new Wordpress Blog “A Family Doctor’s Tale” on http://ken-med.com.From which many free articles from the blog was taken and put together into 1000 eBooks.He apologized for typos and spelling mistakes in his earlier books.He will endeavor to improve the writing in futures.Some people have complained that the simple guides are too simple.For their information they are made simple in order to educate the patients.The later books go into more details of medical disorders.He has published 1000 eBooks on various subjects on health, 1 autobiography of his medical journey, another on the autobiography of a Cancer survivor, 2 children stories and one how to study for his nephew and grand-daughter.The purpose of these simple guides is to educate patient on health disorders and not meant as textbooks.He does not do any night duty since 2000 ever since Dr Tan had his second stroke.His clinic is now relocated to the Buona Vista Community Centre.The 2 units of his original clinic are being demolished to make way for a new Shopping Mall.He is now doing some blogging and internet surfing (bulletin boards since the 1980's) startingwith the Apple computer and going to PC.The entire PC is upgraded by himself from XT to the present Pentium duo core.The present Intel i7 CPU is out of reach at the moment because the CPU is still expensive.He is also into DIY changing his own toilet cistern and other electric appliance.His hunger for knowledge has not abated and he is a lifelong learner.The children have all grown up and there are 2 grandchildren who are even more technically advanced than the grandfather where mobile phones are concerned.This book is taken from some of the many articles in his blog (now with 740 posts) A Family Doctor’s Tale.Dr Kee is the author of:"A Family Doctor's Tale""Life Lessons Learned From The Study And Practice Of Medicine""Case Notes From A Family Doctor"

Book preview

A

Simple

Guide

To

Pseudohypoparathyroidism,

Diagnosis,

Treatment

And

Related Conditions

By

Dr Kenneth Kee

M.B.,B.S. (Singapore)

Ph.D (Healthcare Administration)

Copyright Kenneth Kee 2021 Smashwords Edition

Published by Kenneth Kee at Smashwords.com

Dedication

This book is dedicated

To my wife Dorothy

And my children

Carolyn, Grace

And Kelvin

This book describes Pseudohypoparathyroidism, Diagnosis and Treatment and Related Diseases which is seen in some of my patients in my Family Clinic.

(What You Need to Treat Pseudohypoparathyroidism)

This e-Book is licensed for your personal enjoyment only. This eBook may not be re-sold or given away to other people. If you would like to share this book with another person, please purchase an additional copy for each reader.

If you’re reading this book and did not purchase it, or it was not purchased for your use only, then please return to Smashwords.com and purchase your own copy.

Thank you for respecting the hard work of this author.

Introduction

I have been writing medical articles for my blog: http://kennethkee.blogspot.com (A Simple Guide to Medical Disorder) for the benefit of my patients since 2007.

My purpose in writing these simple guides was for the health education of my patients.

Health Education was also my dissertation for my Ph.D (Healthcare Administration).

I then wrote an autobiography account of my journey as a medical student to family doctor on my other blog: http://afamilydoctorstale.blogspot.com.

This autobiography account A Family Doctor’s Tale was combined with my early A Simple Guide to Medical Disorders into a new Wordpress Blog A Family Doctor’s Tale on http://kenkee481.wordpress.com.

From which many free articles from the blog was taken and put together into 800 eBooks.

Some people have complained that the simple guides are too simple.

For their information they are made simple in order to educate the patients.

The later books go into more details of medical disorders.

The first chapter is always from my earlier blogs which unfortunately tends to have typos and spelling mistakes.

Since 2013, I have tried to improve my spelling and writing.

As I tried to bring the patient the latest information about a disorder or illness by reading the latest journals both online and offline, I find that I am learning more and improving on my own medical knowledge in diagnosis and treatment for my patients.

My diagnosis and treatment capability has improved tremendously from my continued education.

Just by writing all these simple guides I find that I have learned a lot from your reviews (good or bad), criticism and advice.

I am sorry for the repetitions in these simple guides as the second chapters onwards have new information as compared to my first chapter taken from my blog.

I also find repetition definitely help me and maybe some readers to remember the facts in the books more easily.

I apologize if these repetitions are irritating to some readers.

Chapter 1

Pseudohypoparathyroidism

(Chapter from A Simple Guide to Pseudohypoparathyroidism 2021 by Kenneth Kee)

What is Pseudohypoparathyroidism?

Pseudohypoparathyroidism (PHP) is a genetic disorder in which the body fails to respond to parathyroid hormone.

A linked disorder is hypoparathyroidism, in which the body does not make sufficient parathyroid hormone.

What are the causes of Pseudohypoparathyroidism?

Causes

The parathyroid glands produce parathyroid hormone (PTH).

PTH helps regulate calcium, phosphorus, and vitamin D levels in the blood and is essential for bone health.

If the patient has PHP, the body produces the right amount of PTH, but is resistant to its effect.

This causes low blood calcium levels and high blood phosphate levels.

PHP is caused by abnormal genes.

There are different types of PHP.

All forms are infrequent and are normally diagnosed in childhood.

1. Type 1a is inherited in an autosomal dominant manner.

That indicates only one parent needs to pass the patient the faulty