A 15-year-old girl with stunted growth and special physical signs is such a rare disease!

A 15-year-old girl, Ye Mou, came to the hospital for treatment.
She complained of obesity for 15 years and stunted growth for 5 years.
What happened? Ye started to be obese after 3 months of birth.
He weighed 15 kg at 6 months and found that his body was stagnant at the age of 10.

Two years ago, an examination found that the girl’s body mass index BMI had reached 30.
75 kg/m² at a very young age.
At the same time, it was detected that TSH increased, blood calcium decreased, blood phosphorus increased, and PTH increased significantly.
The diagnosis was short and short.
After suffering from primary hypothyroidism, obesity, insulin resistance, and liver function abnormalities, the girl has been treated with calcitriol soft capsules, calcium gluconate, levothyroxine sodium tablets, vitamin C, and metformin for a long time.

 Now I came to the hospital again.
It can be seen that the girl has a special face (round face, collapsed nose), short stature, short fingers, short toes, amblyopia in both eyes, undeveloped mammary glands, and black spine-like changes in the underarms.

 Laboratory examination revealed that the girl’s liver and kidney functions were basically normal, but the following abnormalities: blood calcium: 1.
92 mmol/L (normal range 2.
15 to 2.
55 mmol/L) blood phosphorus: 1.
93 mmol/L (normal range 0.
81 to 1.
45 mmol) /L) Parathyroid hormone: 32.
8 pmol/L (normal range 1.
6～6.
9 pmol/L) 25 hydroxyvitamin D: 47.
79 nmol/L (normal range ≥75nmol/L) calcitonin: 9.
1pg/ml (normal range 0～5.
0 pg/ml) In addition, 24-hour urine calcium and 24-hour urine phosphorus also decreased.

 Wait, haven't we learned before that parathyroid hormone decreases when calcium is low and phosphorus is high? But this time the situation is different.
The patient's initial diagnosis is pseudohypoparathyroidism, which is not common clinically.

 Through this case, we invited Professor Liu Jun from the Department of Endocrinology, Shanghai Fifth People's Hospital affiliated to Fudan University to take us to uncover the veil of pseudohypoparathyroidism.

 1.
"Fake sex"? "Fake sex"? Don’t be foolish to distinguish between two concepts: Pseudo-hypoparathyroidism (PHP): Hypoparathyroidism is not due to a decrease in the synthesis and secretion of parathyroid hormone (PTH), but due to a decline in its biological effects.

The patient has the characteristics of AHO, that is, round face, collapsed nose, short stature, etc.
The patient's dysplastic digits are important diagnostic signs.

Pseudo-pseudohypoparathyroidism (PPHP): There are special signs of PHP, but the corresponding biochemical and metabolic abnormalities are lacking.

 In fact, PHP is related to PPHP and genes-the G protein alpha subunit (Gsα) gene, namely GNAS1, is an imprinted gene, and its inactive mutation can cause PHP (Gs activity is zero) and PPHP (Gs activity is normal) .

 2.
There are many types and different, and typing diagnosis is very important.
Although PHP is not common, there are many types, and clinical typing is very important.

 1.
PHP Ia type This is the most common type clinically.

The receptors on the target cell membrane of these patients cannot bind to PTH, or after binding, they cannot activate the adenosine cyclase system and do not produce cyclic adenosine monophosphate (cAMP), so its physiological effects on PTH cannot occur.
After sexual injection of PTH, urine cAMP did not respond, and at the same time, the Gs activity in the patient's red blood cells decreased.

 Such patients will also have manifestations of other diseases such as primary hypothyroidism, renal hypofunction, diabetes insipidus, etc.
Therefore, the examinations before the diagnosis need to be detailed and comprehensive.

 2.
PHP Ib type patients have no special body shape and lack AHO characteristics.
After exogenous injection of PTH, urine cAMP does not respond, but the patients have tetany and other signs caused by hypocalcemia, which are related to idiopathic parathyroidism.
The reduction is very similar, and at the same time, the Gs in the patient's red blood cell is normal.

 3.
PHP Ic type has the characteristics of AHO, resistance to other hormones, and normal calcium and phosphorus metabolism.

 4.
PHP II type patients have hypocalcemia, hyperphosphatemia, normal or elevated PTH, normal blood cAMP, and normal Gs in red blood cells. In particular, after exogenous injection of PTH, urinary cAMP increased, but the increase in urinary phosphorus was lower than normal.

 However, it is worth noting that vitamin D deficiency itself can separate the two effects of urinary phosphorus and urinary cAMP response caused by exogenous PTH.
Therefore, vitamin D deficiency should be ruled out before diagnosis.

 3.
How is PHP treated? What other issues need to be paid attention to? How to treat after PHP is diagnosed? In fact, PHP is PTH resistance, so vitamin D and calcium can be used to maintain normal blood calcium and urinary calcium excretion, but the dosage is usually lower than that of idiopathic parathyroidism, and individualized program adjustments are required for patients.

At the same time, phosphodiesterase inhibitors can be used to treat blood phosphorus levels.

 In addition, PHP is often accompanied by another problem-fibrous osteitis, which is due to hypocalcemia increases the secretion of PTH, and too much PTH causes fibrocystic osteitis, this condition is also called pseudoparathyroidism -Hyperfunction.

 | Question: Do you know the characteristics of this type of patient? How to treat? Do you know PHP or PPHP, which is maternal inheritance? Which is the father's inheritance? Why do PHP Ia patients have other disease manifestations? What are the most significant characteristics of patients with PHP Ib? How is PPHP treated? In order to solve more related clinical problems, the medical profession specially invited teacher Liu Jun from the Shanghai Fifth People's Hospital affiliated to Fudan University to give an online explanation of "Pseudohypoparathyroidism" (and other endocrine related courses~).
From this lesson review.

Teacher Liu Jun will share his many years of clinical diagnosis and treatment thinking experience in detail! Source of this article: Editor-in-Chief of Excellent Courses in the Medical Field: Little Pineapple Click to read the original text and read it for free now↓↓↓↓