Evaluation of the Children with Hypoparathyroidism and Pseudohypoparathyroidism Presenting to an Endocrinology Outpatient Clinic

Abstract

Objectives: The epidemiology of hypoparathyroidism (HP) is largely unknown. We aimed to identify a clinical profile, prevalence, laboratory findings, etiologies of hypoparathyroidism, and pseudohypoparathyroidism. Materials and Methods: Patients with HP and PHP were identified in electronic hospital registries. We noted patient’s laboratory and clinical findings, etiology, renal ultrasonography, and treatment results. Results: Twenty-six patients were identified, of which 16 were female and 10 were male. Mean age was 8.06 years and average time of the disease was 3.9 years. The most frequent etiologies were primary hypoparathyroidism (39%), the other etiologies were PHP (35%), DiGeorge syndrome (9%), postsurgical (9%), autoimmune polyglandular syndrome (4%), and thalassemia major (4%). All patients were treated with active vitamin D. Conclusion: Understanding the etiology, diagnosis, and symptoms of hypoparathyroidism may help to improve quality of life and long-term disease outcomes. However, further research is necessary to unravel the causes of idiopathic HP and genetic studies should be easier.

Keywords

• Epidemiology
• Hypoparathyroidism
• Pseudohypoparathyroidism

Hipoparatiroidizm ve Psödohipoparatiroidi Nedeni ile Çocuk Endokronoloji Polikliniğine Başvuran Hastaların Değerlendirmesi

Abstract

Amaç: Hipoparatiroidi (HP) çocukluk çağında da görülmekle birlikle epidemiyolojisi tam olarak net değildir. Biz mevcut çalışma ile hipoparatiroidizm etiyolojisini, klinik profilini, prevalansını ve laboratuvar bulgularını ortaya koymayı amaçladık. Gereç ve Yöntem: Elektronik hastane kayıtlarından retrospektif olarak HP ve psödohipoparatiroidi tanısı ile takip edilmiş toplam 26 olguya ulaşıldı. Hastaların laboratuvar ve klinik bulguları, etiyolojisi, böbrek ultrasonografi verileri ve tedavi sonuçları not edildi. Bulgular: Hastaların 16’sı kadın, 10’u erkekti. Ortalama yaş 8,06 iken, ortalama takip süresi 3,9 yıl olarak bulundu. Etiyolojik incelemede sıklık sırası primer HP (%39), PHP (%35), DiGeorge sendromu (%9), cerrahi sonrası (%9), otoimmün poliglandüler sendrom (%4) ve talasemi majör (%4) şeklindeydi. Sonuç: Hipoparatiroidinin etiyolojisi, tanısı ve semptomlarını anlamak, yaşam kalitesini ve uzun süreli hastalık sonuçlarını iyileştirmeye yardımcı olabilir. Bununla birlikte, idiyopatik HP’nin nedenlerini açığa çıkarmak için daha fazla araştırma gereklidir ve genetik çalışmalar daha kolay olmalıdır.

Keywords

• Epidemiyoloji
• Hipoparatiroidizm
• Psödohipoparatiroidizm

References

1. 1. De Sanctis V, Soliman A, Fiscina B. Hypoparathyroidism: from diagnosis totreatment. Curr Opin Endocrinol Diabetes Obes. 2012;19:435-442.
2. 2. Maeda SS, Fortes EM, Oliveira UM, et al. Hypoparathyroidismandpseudohypoparathyroidism. Arq Bras Endocrinol Metabol. 2006;50:664-673.
3. 3. Peacock M. Calcium metabolism in health and disease. Clin J Am Soc Nephrol 2010;Suppl 1:23-30.
4. 4. Menon MC, Ix JH. Dietary phosphorus, serum phosphorus, and cardiovasculardisease. Ann N Y Acad Sci. 2013;1301:21-26.
5. 5. Bilezikian JP, Khan A, Potts JT Jr, et al. Hypoparathyroidism in the adult: epidemiology,diagnosis, pathophysiology, target-organ involvement, treatment, and challengesfor future research. J Bone Miner Res. 2011;26:2317-2337.
6. 6. Astor MC, Løvås K, Debowska A, et al. Epidemiology and Health-Related Quality of Life in Hypoparathyroidism in Norway. J Clin Endocrinol Metab. 2016;101:3045-3053.
7. 7. Shoback D. Clinical practice. Hypoparathyroidism. N Engl J Med. 2008;359:391-403.
8. 8. Eisenbarth GS, Gottlieb PA. Autoimmune polyendocrine syndromes. N Engl J Med. 2004;350:2068-2079.

9. 9. Blizzard RM, Chee D, Davis W. The incidence of parathyroid and otherantibodies in thesera of patients with idiopathic hypoparathyroidism. Clin ExpImmunol. 1966;1:119-128.
10. 10. Botto LD, May K, Fernhoff PM, et al. A population-based studyof the 22q11.2 deletion: phenotype, incidence, and contribution to major birthdefects in the population. Pediatrics. 2003;112:101-107.
11. 11. Kobrynski LJ, Sullivan KE. Velocardiofacial syndrome, DiGeorge syndrome: thechromosome 22q11.2 deletion syndromes. Lancet. 2007;370:1443-1452.
12. 12. Parvari R, Diaz GA, Hershkovitz E. Parathyroid development and the role oftubulin chaperone E. Horm Res. 2007;67:12-21.
13. 13. Sanjad SA, Sakati NA, Abu-Osba YK, et al. A new syndrome ofcongenital hypoparathyroidism, severe growth failure, and dysmorphic features. Arch Dis Child. 1991;66:193-196.
14. 14. Yeşiltepe Mutlu G, Kırmızıbekmez H, Nakamura A, et al. A Novel DeNovo GATA Binding Protein 3 Mutation in a Turkish Boy with Hypoparathyroidism,Deafness, and Renal Dysplasia Syndrome. J Clin Res Pediatr Endocrinol. 2015;7:344-348.
15. 15. Thakker RV,Juppner H. Endocrinology. In: DeGroot LJ, Jameson JL, editors. Genetic disorders of calcium homeostasis caused by abnormalregulation of parathyroid hormone secretion or responsiveness. 9th ed. Philadelphia: WB Saunders Company, 2001. p. 1062-1074.
16. 16. Angelopoulos NG, Goula A, Rombopoulos G, et al. Hypoparathyroidism in transfusion-dependent patients withbeta-thalassemia. J Bone Miner Metab. 2006;24:138-145.
17. 17. Mitchell DM, Regan S, Cooley MR, et al. Long-term follow-up of patients with hypoparathyroidism. J Clin Endocrinol Metab. 2012;97:4507-4514.
18. 18. Levy I, Licht C, Daneman A, et al. The Impact of Hypoparathyroidism Treatment on the Kidney in Children: Long-Term RetrospectiveFollow-Up Study. J Clin Endocrinol Metab. 2015;100:4106-4113