Article detail · 2014
Çocukluk çağında ender görülen intrakraniyal kalsifikasyonla giden bir psödohipoparatiroidizm olgusu
İzmir Dr. Behçet Uz Çocuk Hastalıkları Dergisi
- Year
- 2014
- ISSN
2146-2372- Type
- article
Data source split
- YÖKSİS YÖKSİS article record
- OpenAlex OpenAlex enrichment (abstract, citations, topics)
Abstract
English (OpenAlex)
Introduction: Pseudohypoparathyroidism (PHPT) is characterized with end-organ resistance to parathormone (PTH) although normal hormone secretion and divided into two groups as Type 1 and Type 2. Furthermore, Type 1 PHPT is subdivided into 3 subgroups as ‘a’, ‘b’ and ‘c’. Case: Ten years old male case has admitted to our department with numbness and spasm in hands and we have detected hypocalcemia, hyperphosphatemia and increased parathormone levels. Cranial computed tomography revealed patchy calsific areas in phenotypically normal case. Conclusion: We primarily considered the case as having PHPT Type 1b or Type 2 and started active vitamine D and calcium replacement therapies which improved clinical and laboratory findings.
Topics
- Genetic Syndromes and Imprinting
- Genomics and Rare Diseases
- Parathyroid Disorders and Treatments
Primary topic Genetic Syndromes and Imprinting