parathyroid disorders diagnosis in children .pptx

parathyroid disorders diagnosis in children .

1. Field of Medicine Medicine Program Lecture : (parathyroid gland disorders ) Date : 26/2 /2025 Dr : (Marwa Elsayed )

2. STRUCTURE The parathyroid glands are four, very small glands found in the neck behind the thyroid gland. Each gland is about 3-4 mm in size.

3. DIRECT REGULATION OF BLOOD CALCIUM ION LEVEL PARTICIPATES INDIRECTLY IN REGULATION OF PHOSPHATE

4. Function

5. DISEASE CLASSIFICATION

6. HYPERPARATHYROIDISM It is classified into: - PRIMARY HYPERPARATHYROIDISM : an autonomous, spontaneous overproduction of PTH. Example: Tumor - SECONDARY HYPERPARATHYROIDISM : any condition that gives rise to chronic hypocalcemia , which in turn leads to compensatory overactivity of the parathyroid glands. Example Chronic Renal insufficiency NB: Hypercalcemia occuring in these cases is unable to downregulate production of PTH.

7. RESULT Two major sites of complication of primary hyperparathyroidism are Kidneys and bones . The kidneys may have renal stones (nephrolithiasis) or diffuse deposition of calcium-phosphate complexes in the parenchyma ( nephrocalcinosis ). In skeleton a condition called “ osteitis fibrosa cystica ” could occur characterized by subperiosteal resorption of the distal phalanges , distal tappering of the clavicles , a “salt and pepper” appearance of the skull as well as bone cysts and brown tumors of the long bones.

8. cardiac arrhythmias, tremors (Ca++ necessary for normal muscle contraction Anorexia, vomiting, constipation Weakness Polyuria, polydipsia, hypercalcuria peptic ulcer disease, acute pancreatitis, hypertension, gout and pseudo gout, and anaemia

9. Workup in hyperparathyroidism Primary hyperparathyroidism Testing of the intact parathyroid hormone level is the core of the diagnosis. An elevated intact parathyroid hormone level with an elevated ionized serum calcium level is diagnostic of primary hyperparathyroidism. A 24-hour urine calcium measurement is necessary to rule out familial benign (hypocalciuric) hypercalcemia (FHH). Ultrasonography of the neck is a safe and widely used technique for localization of abnormal parathyroid glands.

10. Secondary hyperparathyroidism The serum level of parathyroid hormone, calcium, phosphorus, and 25-hydroxyvitamin D should be measured. Patients with secondary hyperparathyroidism usually have low-normal calcium and elevated parathyroid hormone. The serum phosphorus level may vary based on the etiology, trending towards higher values with reduced kidney function and lower values with vitamin D deficiency. Ultrasonography may reveal thyroid pathology that was previously not recognized and that should be dealt with at the time of neck exploration.

11. Management of hyperparathyroidism Primary hyperparathyroidism Surgical excision of abnormal parathyroid glands offers the only permanent, curative treatment for primary hyperparathyroidism. Secondary hyperparathyroidism Unlike primary hyperparathyroidism, medical management is the mainstay of treatment for secondary hyperparathyroidism.

12. Nonsurgical options for the management of secondary hyperparathyroidism in chronic kidney disease (CKD) include the following: Dietary phosphorus restriction Phosphate binders Vitamin D and its analogs Calcium Tertiary hyperparathyroidism Total parathyroidectomy with autotransplantation or subtotal parathyroidectomy is indicated.

13. HYPOPARATHYROIDISM Deficient secretion of PTH CAUSES Surgically induced hypoparathyroidism Autoimmune hypoparathyroidism : associated with autoimmune polyendocrine syndrome type 1. Autosomal-dominant hypoparathyroidism is caused by gain-of-function mutations in the calcium-sensing receptor (CASR) gene. Familial isolated hypoparathyroidism (FIH) Congenital absence of parathyroid glands Functional hypoparathyroidism : due to low level of magnesium which is required for PTH release from the glands

14. Risk factors for hypoparathyroidism Having recent neck or thyroid surgery. Having a family history of parathyroid conditions. Having certain autoimmune diseases that affect your endocrine system, such as Addison’s disease.

15. Clinical manifestations The hallmark of hypocalcemia is tetany , which is characterized by neuromuscular irritability. Symptoms range from circumoral numbness or paresthesias (tingling) of the distal extremities and carpopedal spasm , to life-threatening laryngospasm and generalized seizures. The major clinical manifestations of hypoparathyroidism are related to the severity and chronicity of the hypocalcemia .

16. Chvostek's sign (twitching of facial muscles in response to tapping over the facial nerve. and Trousseau's sign (carpopedal spasm induced by pressure applied to the arm by an inflated sphygmomanometer cuff Mental status changes include emotional instability , anxiety and depression , confusional states , hallucinations , and frank psychosis . Intracranial manifestations include calcifications of the basal ganglia , parkinsonian -like movement disorders , and increased intracranial pressure with resultant papilledema.

17. Ocular disease takes the form of calcification of the lens and cataract formation. Cardiovascular manifestations include a conduction defect that produces a characteristic prolongation of the QT interval in the electrocardiogram . Dental abnormalities occur when hypocalcemia is present during early development. These findings include: dental hypoplasia , failure of eruption , defective enamel and root formation , and abraded carious teeth.

18. Laboratory Studies Parathyroid hormone Primary hypoparathyroidism is defined by a low concentration of PTH with a concomitant low calcium level. In pseudohypoparathyroidism, the serum PTH concentration is elevated as a result of resistance to PTH caused by mutations in the PTH receptor system. In secondary hypoparathyroidism, the serum PTH concentration is low and the serum calcium concentration is elevated.

19. Calcium Ionized calcium is the definitive method for diagnosing hypocalcemia. A serum calcium level less than 8.5 mg/dL or an ionized calcium level less than 1.0 mmol/L is considered hypocalcemia. The calcium ion is highly bound to protein. A total calcium level cannot be interpreted without a total protein or albumin level. Measurement of ionized calcium concentration in the plasma is ideal; however, it is not readily available in many places. Alkalosis causes ionized calcium to bind to albumin more strongly. This causes a decrease in the ionized calcium and may trigger symptoms of hypocalcemia.

20. Measurement of 25-hydroxy vitamin D : This measurement is important to exclude vitamin D deficiency as a cause of hypocalcemia; in this situation PTH levels will be high. Serum magnesium: Hypomagnesemia may cause PTH deficiency and subsequent hypocalcemia. Exclude it in any patient with primary hypoparathyroidism. Serum phosphorus : PTH is a phosphaturic hormone. In its absence, phosphorus levels in the blood rise.

21. How is hypoparathyroidism treated? Treatment can include: Most people with hypoparathyroidism have to take calcium and vitamin D supplements for life. It’s the go-to treatment option for hypoparathyroidism. Your body needs vitamin D to absorb and use calcium, so if you have hypoparathyroidism, you need to take both supplements. Eating a high-calcium and low-phosphorous diet : People with hypoparathyroidism likely won’t get enough calcium that they need from diet alone, but your healthcare provider may recommend eating a diet high in calcium and low in phosphorous if you have hypoparathyroidism. Getting parathyroid hormone (PTH) injections : If taking calcium and vitamin D supplements isn’t working to treat your hypoparathyroidism, your provider might have you take parathyroid hormone injections.

22. What is the outlook (prognosis) for hypoparathyroidism? The prognosis for hypoparathyroidism is generally good, especially if it’s diagnosed early. However, if a person has cataracts, brain calcifications and/or dental changes from hypoparathyroidism, they can’t be reversed.

23. Are there complications of hypoparathyroidism? Long-term complications of hypoparathyroidism can include: Issues with kidney function. Kidney stones. Cataracts. Calcium deposits in your brain.

24. For children specifically, complications from hypoparathyroidism can include: Poor growth. Dental issues. Slow mental development. Complications of untreated hypoparathyroidism due to sudden and severe (acute) hypocalcemia include seizures and larynx spasms, which can make it difficult to breathe. If you’re experiencing these symptoms, get to the nearest hospital as soon as possible

25. PSEUDOHYPOPARATHYROIDISM H ypoparathyroidism occuring as a result of end-organ resistance to the actions of PTH. PTH like TSH, FSH & LH signal via G-protein–triggered second messengers, and the disorder results from genetic defects in this pathway. Thus level of PTH may be normal but all the symptoms of hypocalcemia are present.

26. Types of PSEUDOHYPOPARATHYROIDISM Type 1a Has a characteristic phenotypic appearance (Albright's hereditary osteodystrophy) , including short fourth and fifth metacarpals and a rounded facies. It is most likely an autosomal dominant disorder. It is also associated with thyroid stimulating hormone resistance. Caused by GNAS1 mutation. Type 1b Lacks the physical appearance of type 1a, but is biochemically similar. It is associated with a methylation defect in the A/B exon of GNAS1, caused by STX16 disruption. Type 2 Also lacks the physical appearance of type 1a. Since the genetic defect in type 2 is further down the signalling pathway than in type 1, there is a normal cAMP response to PTH stimulation despite the inherent abnormality in calcium regulation. The specific gene is not identified

27. Patients with pseudohypoparathyroidism (PHP) can present in infancy, especially if significant hypocalcemia occurs. Patients with PHP type 1a present with a characteristic phenotype, collectively called Albright hereditary osteodystrophy (AHO). The constellation of findings includes the following: Short stature Stocky habitus Obesity Developmental delay

28. Round face Dental hypoplasia Brachymetacarpals Brachymetatarsals Soft tissue calcification/ossification Patients may develop paresthesias, muscular cramping, tetany, carpopedal spasm, or seizure. Hypocalcemia in children or adolescents is often asymptomatic.

29. Diagnostic investigations 1st investigations to order serum calcium serum phosphorus serum PTH serum creatinine Investigations to consider x-ray hands ECG serum thyroid-stimulating hormone (TSH) serum free thyroxine (T4)

30. Treatment You can’t cure pseudohypoparathyroidism, but you can manage it with ongoing, lifelong treatment. Treatments may include: Calcium vitamin D supplements. Calcitriol is a hormone and the active form of vitamin D, normally made in the kidney. It is also known as 1,25-dihydroxycholecalciferol. Growth or thyroid hormone replacement. A high-calcium, low-phosphorus diet