Yıl: 2020 Cilt: 24 Sayı: 2 Sayfa Aralığı: 173 - 176 Metin Dili: İngilizce İndeks Tarihi: 24-11-2020

Unrecognized Pseudopseudohypoparathyroidism in a Case of Post-Traumatic Brain Injury with Multiple Pituitary Hormone Deficiency: A Rare Coincidence

Öz:
Pseudopseudohypoparathyroidism is a rare clinical entity ofautosomal dominant inheritance, which shows phenotypic similarity to pseudohypoparathyroidism. However, the main difference lies in their biochemical profiles. The former diseaseis characterized by normal serum calcium, phosphorus, vitamin D, and parathyroid hormone (PTH) level, whereas the latter shows features suggestive of PTH resistance. Our patientpresented after post blunt trauma of head with diabetes insipidus and short stature. Investigations revealed multiple pituitary hormone deficiency. Further examination wasconducted for pseudohypoparathyroidism, keeping in mindshort metacarpals, knuckle knuckle dimple dimple sign, andshort stature, but normal calcium, phosphorus, vitamin D andPTH value led to the diagnosis of pseudopseudohypoparathyroidism. GNAS mutation analysis is necessary to confirm thediagnosis, which could not be performed in this patient due tothe high cost. This case shows that pseudopseudohypoparathyroidism, although a rare disease, should be appropriatelyinvestigated in such patients if they present with peculiar skeletal features of pseudohypoparathyroidism.
Anahtar Kelime:

Çoklu Hipofizer Hormon Eksikliği Olan Posttravmatik Beyin Hasarı Olgusunda Tanınmayan Psödopsödohipoparatiroidi: Nadir Bir Koinsidans

Öz:
Psödopsödohipoparatiroidizm, otozomal dominant kalıtımlı ve psödohipoparatiroidizme fenotipik benzerlik gösteren nadir bir klinik antitedir. Bununla birlikte, temel fark biyokimyasal profillerinde yatmaktadır. İlk hastalık normal serum kalsiyum, fosfor, D vitamini ve paratiroid hormon (PTH) seviyesi ile karakterize iken, ikinci hastalık PTH direncini düşündüren özellikler gösterir. Hastamız künt kafa travması sonrası diabetes insipidus ve kısa boy ile başvurdu. Araştırmalar, çoklu hipofizer hormon eksikliği olduğunu ortaya koydu. Kısa metakarpaller, eklem eklem çukur çukur işareti ve kısa boy akılda tutularak psödohipoparatiroidizm için daha fazla inceleme yapıldı, ancak normal kalsiyum, fosfor, D vitamini ve PTH değeri psödopsödohipoparatiroidizm tanısı konulmasına yol açtı. Hastada tanıyı doğrulamak için GNAS mutasyon analizi gereklidir ancak yüksek maliyeti nedeni ile yapılamamıştır. Bu olgu, psödohipoparatiroidizme özgü iskelet özelliklerini taşıyan hastalarda, nadir görülen bir hastalık olsa da psödopsödohipoparatiroidizmin uygun şekilde araştırılması gerektiğini göstermektedir.
Anahtar Kelime:

Belge Türü: Makale Makale Türü: Olgu Sunumu Erişim Türü: Erişime Açık
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APA srivastava M, kharkwal n, Tiwari A, GUPTA K (2020). Unrecognized Pseudopseudohypoparathyroidism in a Case of Post-Traumatic Brain Injury with Multiple Pituitary Hormone Deficiency: A Rare Coincidence. , 173 - 176.
Chicago srivastava Manish,kharkwal nihit,Tiwari Alankar,GUPTA KESHAV Unrecognized Pseudopseudohypoparathyroidism in a Case of Post-Traumatic Brain Injury with Multiple Pituitary Hormone Deficiency: A Rare Coincidence. (2020): 173 - 176.
MLA srivastava Manish,kharkwal nihit,Tiwari Alankar,GUPTA KESHAV Unrecognized Pseudopseudohypoparathyroidism in a Case of Post-Traumatic Brain Injury with Multiple Pituitary Hormone Deficiency: A Rare Coincidence. , 2020, ss.173 - 176.
AMA srivastava M,kharkwal n,Tiwari A,GUPTA K Unrecognized Pseudopseudohypoparathyroidism in a Case of Post-Traumatic Brain Injury with Multiple Pituitary Hormone Deficiency: A Rare Coincidence. . 2020; 173 - 176.
Vancouver srivastava M,kharkwal n,Tiwari A,GUPTA K Unrecognized Pseudopseudohypoparathyroidism in a Case of Post-Traumatic Brain Injury with Multiple Pituitary Hormone Deficiency: A Rare Coincidence. . 2020; 173 - 176.
IEEE srivastava M,kharkwal n,Tiwari A,GUPTA K "Unrecognized Pseudopseudohypoparathyroidism in a Case of Post-Traumatic Brain Injury with Multiple Pituitary Hormone Deficiency: A Rare Coincidence." , ss.173 - 176, 2020.
ISNAD srivastava, Manish vd. "Unrecognized Pseudopseudohypoparathyroidism in a Case of Post-Traumatic Brain Injury with Multiple Pituitary Hormone Deficiency: A Rare Coincidence". (2020), 173-176.
APA srivastava M, kharkwal n, Tiwari A, GUPTA K (2020). Unrecognized Pseudopseudohypoparathyroidism in a Case of Post-Traumatic Brain Injury with Multiple Pituitary Hormone Deficiency: A Rare Coincidence. Turkish Journal of Endocrinology and Metabolism, 24(2), 173 - 176.
Chicago srivastava Manish,kharkwal nihit,Tiwari Alankar,GUPTA KESHAV Unrecognized Pseudopseudohypoparathyroidism in a Case of Post-Traumatic Brain Injury with Multiple Pituitary Hormone Deficiency: A Rare Coincidence. Turkish Journal of Endocrinology and Metabolism 24, no.2 (2020): 173 - 176.
MLA srivastava Manish,kharkwal nihit,Tiwari Alankar,GUPTA KESHAV Unrecognized Pseudopseudohypoparathyroidism in a Case of Post-Traumatic Brain Injury with Multiple Pituitary Hormone Deficiency: A Rare Coincidence. Turkish Journal of Endocrinology and Metabolism, vol.24, no.2, 2020, ss.173 - 176.
AMA srivastava M,kharkwal n,Tiwari A,GUPTA K Unrecognized Pseudopseudohypoparathyroidism in a Case of Post-Traumatic Brain Injury with Multiple Pituitary Hormone Deficiency: A Rare Coincidence. Turkish Journal of Endocrinology and Metabolism. 2020; 24(2): 173 - 176.
Vancouver srivastava M,kharkwal n,Tiwari A,GUPTA K Unrecognized Pseudopseudohypoparathyroidism in a Case of Post-Traumatic Brain Injury with Multiple Pituitary Hormone Deficiency: A Rare Coincidence. Turkish Journal of Endocrinology and Metabolism. 2020; 24(2): 173 - 176.
IEEE srivastava M,kharkwal n,Tiwari A,GUPTA K "Unrecognized Pseudopseudohypoparathyroidism in a Case of Post-Traumatic Brain Injury with Multiple Pituitary Hormone Deficiency: A Rare Coincidence." Turkish Journal of Endocrinology and Metabolism, 24, ss.173 - 176, 2020.
ISNAD srivastava, Manish vd. "Unrecognized Pseudopseudohypoparathyroidism in a Case of Post-Traumatic Brain Injury with Multiple Pituitary Hormone Deficiency: A Rare Coincidence". Turkish Journal of Endocrinology and Metabolism 24/2 (2020), 173-176.