Endocrinology and Metabolism

Case Report

A Case of Diabetes Insipidus with Langerhans Cell Histiocytosis in Adult.: Jae Hoon Chung, Kwang Won Kim, Kyu Jeung Ahn, Yong Ki Min, Myung Shik Lee, Moon Kyu Lee, Eun Mi Koh, Choon Kwan Kim, Mann Pyo Jung; J Korean Endocr Soc. 1996;11(3):330-335. Published online November 7, 2019

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Abstract PDF: In Langerhans cell histiocytosis, diabetes insipidus is the most common endocrinologic complication. We experienced a case of Langerhans cell histiocytosis, involving pituitary stalk and lung. The patient was a 43 year old male with complaint of polyuria and polydipsia. The water deprivation test was carried out to confirm the diagnosis of diabetes insipidus. We found multiple small cysts and nodules in HRCT of lung, and diagnosed Langerhans cell histiocytosis by transbronchial lung biopsy, The patient was managed conservatively with DDAVP nasal spray. The polyuria,polydipsia was relieved completely. After that, we follow up and observe closely the patients lung and pituitary lesion.

Original Articles

Clinical Study
Factors Associated with Postoperative Diabetes Insipidus after Pituitary Surgery: Antonio L. Faltado, Anna Angelica Macalalad-Josue, Ralph Jason S. Li, John Paul M. Quisumbing, Marc Gregory Y. Yu, Cecilia A. Jimeno; Endocrinol Metab. 2017;32(4):426-433. Published online November 21, 2017; DOI: https://doi.org/10.3803/EnM.2017.32.4.426

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Background

Determining risk factors for diabetes insipidus (DI) after pituitary surgery is important in improving patient care. Our objective is to determine the factors associated with DI after pituitary surgery.

Methods

We reviewed records of patients who underwent pituitary surgery from 2011 to 2015 at Philippine General Hospital. Patients with preoperative DI were excluded. Multiple logistic regression analysis was performed and a predictive model was generated. The discrimination abilities of the predictive model and individual variables were assessed using the receiving operator characteristic curve.

Results

A total of 230 patients were included. The rate of postoperative DI was 27.8%. Percent change in serum Na (odds ratio [OR], 1.39; 95% confidence interval [CI], 1.15 to 1.69); preoperative serum Na (OR, 1.19; 95% CI, 1.02 to 1.40); and performance of craniotomy (OR, 5.48; 95% CI, 1.60 to 18.80) remained significantly associated with an increased incidence of postoperative DI, while percent change in urine specific gravity (USG) (OR, 0.53; 95% CI, 0.33 to 0.87) and meningioma on histopathology (OR, 0.05; 95% CI, 0.04 to 0.70) were significantly associated with a decreased incidence. The predictive model generated has good diagnostic accuracy in predicting postoperative DI with an area under curve of 0.83.

Conclusion

Greater percent change in serum Na, preoperative serum Na, and performance of craniotomy significantly increased the likelihood of postoperative DI while percent change in USG and meningioma on histopathology were significantly associated with a decreased incidence. The predictive model can be used to generate a scoring system in estimating the risk of postoperative DI.

Citations

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Importance of Intraoperative Factors in Postoperative Arginine Vasopressin Deficiency After Pituitary Adenoma Surgery
Nasim Alidaei, Guive Sharifi, Zahra Davoudi
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Incidence of post-operative diabetes insipidus and associated factors after pituitary surgery in two teaching hospitals, in Addis Ababa, Ethiopia: A prospective observational study
Abera Chanie, Abat Sahlu
Interdisciplinary Neurosurgery.2024; 37: 101978. CrossRef
Pituitary Adenoma in the Philippines: A Scoping Review on the Treatment Gaps, Challenges, and Current State of Care
Mykha Marie B. Tabuzo, Mary Angeline Luz U. Hernandez, Annabell E. Chua, Patricia D. Maningat, Harold Henrison C. Chiu, Roland Dominic G. Jamora
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In Reply to the Letter to the Editor Regarding “Risk Factors Related to Transient Diabetes Insipidus Development Following Transsphenoidal Pituitary Adenoma Resection: A Multicentric Study”
Marcos Ezequiel Yasuda, Daniela Renedo, Rodolfo Recalde, Roberto Zaninovich, Santiago Gonzalez Abbati, Andrés Cervio, Sebastian Giovannini, Juan Villalonga, Liezel Ulloque-Caamaño, Kesava Reddy, Mariano Socolovsky, Alvaro Campero
World Neurosurgery.2024; 185: 484. CrossRef
Letter to the Editor Regarding “Risk Factors Related to Transient Diabetes Insipidus Development Following Transsphenoidal Pituitary Adenoma Resection: A Multicentric Study”
Karlos Acurio, Fritz Fidel Váscones-Román, Fernando Canazas-Paredes, Aryan Wadhwa, Niels Pacheco-Barrios
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Josh Ma, Peter Gooderham, Ryojo Akagami, Serge Makarenko
Neurosurgery.2023; 92(6): 1269. CrossRef
Risk Factors Related to Transient Diabetes Insipidus Development Following Transsphenoidal Pituitary Adenoma Resection: A Multicentric Study
Marcos Ezequiel Yasuda, Daniela Renedo, Soledad Sosa, Karina Danilowicz, Rodolfo Recalde, Roberto Zaninovich, Santiago Gonzalez Abbati, Andrés Cervio, Sebastian Giovannini, Juan Villalonga, Liezel Ulloque-Caamaño, Kesava Reddy, Mariano Socolovsky, Alvaro
World Neurosurgery.2023; 175: e636. CrossRef
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Kunzhe Lin, Kaichun Fan, Shuwen Mu, Shousen Wang
European Journal of Medical Research.2022;[Epub] CrossRef
Change in the pituitary stalk deviation angle after transsphenoidal surgery can predict the development of diabetes insipidus for pituitary adenomas
Liang Xue, Jianwu Wu, Jie Chen, Yongkai Yang
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Disorders of Salt and Water Balance After Pituitary Surgery
Emily K Brooks, Warrick J Inder
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Postoperative diabetes insipidus: how to define and grade this complication?
Friso de Vries, Daniel J. Lobatto, Marco J. T. Verstegen, Wouter R. van Furth, Alberto M. Pereira, Nienke R. Biermasz
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Diaphragma sellae sinking can predict the onset of hyponatremia after transsphenoidal surgery for pituitary adenomas
Kunzhe Lin, Jun Li, Lingling Lu, Shangming Zhang, Shuwen Mu, Zhijie Pei, Cheng Wang, Jingying Lin, Liang Xue, Liangfeng Wei, Lin Zhao, Shousen Wang
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Adrenocorticotropic Hormone-Secreting Pituitary Macroadenoma
Ujjwala Murkute
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Sodium Perturbations After Pituitary Surgery
Kevin C.J. Yuen, Adnan Ajmal, Ricardo Correa, Andrew S. Little
Neurosurgery Clinics of North America.2019; 30(4): 515. CrossRef

Adrenal gland
Clinical Characteristics, Management, and Outcome of 22 Cases of Primary Hypophysitis: Sun Mi Park, Ji Cheol Bae, Ji Young Joung, Yoon Young Cho, Tae Hun Kim, Sang-Man Jin, Sunghwan Suh, Kyu Yeon Hur, Kwang-Won Kim; Endocrinol Metab. 2014;29(4):470-478. Published online December 29, 2014; DOI: https://doi.org/10.3803/EnM.2014.29.4.470

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Background

Primary hypophysitis causes varying degrees of endocrine dysfunction and mass effect. The natural course and best treatment have not been well established.

Methods

Medical records of 22 patients who had been diagnosed with primary hypophysitis between January 2001 and March 2013 were retrospectively reviewed. Based on the anatomical location, we classified the cases as adenohypophysitis (AH), infundibuloneurohypophysitis (INH), and panhypophysitis (PH). Clinical presentation, endocrine function, pathologic findings, magnetic resonance imaging findings, and treatment courses were reviewed.

Results

Among 22 patients with primary hypophysitis, 81.8% (18/22) had involvement of the posterior pituitary lobe. Two patients of the AH (2/3, 66.6%) and three patients of the PH (3/10, 30%) groups initially underwent surgical mass reduction. Five patients, including three of the PH (3/10, 33.3%) group and one from each of the AH (1/3, 33.3%) and INH (1/9, 11.1%) groups, initially received high-dose glucocorticoid treatment. Nearly all of the patients treated with surgery or high-dose steroid treatment (9/11, 82%) required continuous hormone replacement during the follow-up period. Twelve patients received no treatment for mass reduction due to the absence of acute symptoms and signs related to a compressive mass effect. Most of them (11/12, 92%) did not show disease progression, and three patients recovered partially from hormone deficiency.

Conclusion

Deficits of the posterior pituitary were the most common features in our cases of primary hypophysitis. Pituitary endocrine defects responded less favorably to glucocorticoid treatment and surgery. In the absence of symptoms related to mass effect and with the mild defect of endocrine function, it may not require treatment to reduce mass except hormone replacement.

Citations

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Case Report

Adrenal gland
Adult Multisystem Langerhans Cell Histiocytosis Presenting with Central Diabetes Insipidus Successfully Treated with Chemotherapy: Jung-Eun Choi, Hae Ri Lee, Jung Hun Ohn, Min Kyong Moon, Juri Park, Seong Jin Lee, Moon-Gi Choi, Hyung Joon Yoo, Jung Han Kim, Eun-Gyoung Hong; Endocrinol Metab. 2014;29(3):394-399. Published online September 25, 2014; DOI: https://doi.org/10.3803/EnM.2014.29.3.394

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We report the rare case of an adult who was diagnosed with recurrent multisystem Langerhans cell histiocytosis (LCH) involving the pituitary stalk and lung who present with central diabetes insipidus and was successfully treated with systemic steroids and chemotherapy. A 49-year-old man visited our hospital due to symptoms of polydipsia and polyuria that started 1 month prior. Two years prior to presentation, he underwent excision of right 6th and 7th rib lesions for the osteolytic lesion and chest pain, which were later confirmed to be LCH on pathology. After admission, the water deprivation test was done and the result indicated that he had central diabetes insipidus. Sella magnetic resonance imaging showed a mass on the pituitary stalk with loss of normal bright spot at the posterior lobe of the pituitary. Multiple patchy infiltrations were detected in both lung fields by computed tomography (CT). He was diagnosed with recurrent LCH and was subsequently treated with inhaled desmopressin, systemic steroids, vinblastine, and mercaptopurine. The pituitary mass disappeared after two months and both lungs were clear on chest CT after 11 months. Although clinical remission in multisystem LCH in adults is reportedly rare, our case of adult-onset multisystem LCH was treated successfully with systemic chemotherapy using prednisolone, vinblastine, and 6-mercaptopurine, which was well tolerated.

Citations

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Adult localized Langerhans cell histiocytosis: A case report
Pan-Pan Yang, Su-Ye Hu, Xu-Ya Chai, Xiao-Meng Shi, Li-Xia Liu, Ling-E Li
World Journal of Clinical Cases.2023; 11(34): 8164. CrossRef
Adult Langerhans Cell Histiocytosis Masquerading as Hidradenitis Suppurativa
Jason Chertoff, Julian Chung, Ali Ataya
American Journal of Respiratory and Critical Care Medicine.2017; 195(8): e34. CrossRef
Articles in 'Endocrinology and Metabolism' in 2014
Won-Young Lee
Endocrinology and Metabolism.2015; 30(1): 47. CrossRef
Pulmonary Langerhans Cell Histiocytosis in an Adult Male Presenting with Central Diabetes Insipidus and Diabetes Mellitus: A Case Report
Yeun Seoung Choi, Jung Soo Lim, Woocheol Kwon, Soon-Hee Jung, Il Hwan Park, Myoung Kyu Lee, Won Yeon Lee, Suk Joong Yong, Seok Jeong Lee, Ye-Ryung Jung, Jiwon Choi, Ji Sun Choi, Joon Taek Jeong, Jin Sae Yoo, Sang-Ha Kim
Tuberculosis and Respiratory Diseases.2015; 78(4): 463. CrossRef
Adult-onset Langerhans cell histiocytosis presenting with adipsic diabetes insipidus, diabetes mellitus and hypopituitarism: A case report and review of literature
Erick S. Mendoza, Amy A. Lopez, Valerie Ann U. Valdez, Jean D. Uy-Ho, Sjoberg A. Kho
Journal of Clinical and Translational Endocrinology: Case Reports.2015; 1(1): 1. CrossRef

Original Article

Clinical Characteristics of Langerhans Cell Histiocytosis with Hypothalamo-Pituitary Involvement.: Eun Shil Hong, Jung Hun Ohn, Jung Hee Kim, Yul Hwang-Bo, Jin Joo Kim, Jung Hee Kwon, Jung Won Lee, Se Youn Choi, Eun Kyung Lee, Sun Wook Cho, Chan Soo Shin, Kyong Soo Park, Hak Chul Jang, Bo Youn Cho, Hong Kyu Lee, Choong Ho Shin, Sei Won Yang, Seong Yeon Kim; Endocrinol Metab. 2011;26(1):38-43. Published online March 1, 2011; DOI: https://doi.org/10.3803/EnM.2011.26.1.38

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Abstract PDF

BACKGROUND
Langerhans cell histiocytosis (LCH) is a rare disease that involves a clonal proliferation of Langerhans cells. LCH has a predilection for hypothalamo-pituitary axis (HPA) dysfunction, and this leads to diabetes insipidus (DI) and/or anterior pituitary dysfunction. Here, we describe the endocrine dysfunction and clinical characteristics of adult patients with LCH and we analyzed the differences between an adult-onset type and a childhood-onset type. METHODS: The data was obtained from a retrospective chart review of the patients with LCH that involved the HPA and who attended Seoul National University Hospital. The patients were classified into the adult-onset type (age at the time of diagnosis > or = 16) and the childhood-onset type (age at the time of diagnosis < or = 15). RESULTS: Ten patients (9 males and 1 female) were diagnosed with LCH involving the HPA. Five patients were classified as an adultonset type and the other five patients were classified as a childhood-onset type. The median follow-up duration was 6 (3-12) years for the adult-onset type and 16 (15-22) years for the childhood-onset type. All the patients presented with DI as the initial manifestation of HPA involvement. Four adult-onset patients and three childhood-onset patients had a multi-system disease. Panhypopituitarism developed in three adult-onset patients and in one childhood-onset patient. The pituitary lesion of the three adult-onset patients had spread to the brain during the follow-up duration. In contrast, the pituitary lesion of the other two adult-onset patients without panhypopituitarism and all the childhood-onset patients had not changed. CONCLUSION: DI was the initial presentation symptom of HPA involvement. Anterior pituitary hormone deficiency followed in some patients. Compared with the childhood-onset patients, the adult-onset patients were more likely to have panhypopituitarism and a poor prognosis.

Citations

Citations to this article as recorded by

Pulmonary Langerhans Cell Histiocytosis in an Adult Male Presenting with Central Diabetes Insipidus and Diabetes Mellitus: A Case Report
Yeun Seoung Choi, Jung Soo Lim, Woocheol Kwon, Soon-Hee Jung, Il Hwan Park, Myoung Kyu Lee, Won Yeon Lee, Suk Joong Yong, Seok Jeong Lee, Ye-Ryung Jung, Jiwon Choi, Ji Sun Choi, Joon Taek Jeong, Jin Sae Yoo, Sang-Ha Kim
Tuberculosis and Respiratory Diseases.2015; 78(4): 463. CrossRef
Adult Multisystem Langerhans Cell Histiocytosis Presenting with Central Diabetes Insipidus Successfully Treated with Chemotherapy
Jung-Eun Choi, Hae Ri Lee, Jung Hun Ohn, Min Kyong Moon, Juri Park, Seong Jin Lee, Moon-Gi Choi, Hyung Joon Yoo, Jung Han Kim, Eun-Gyoung Hong
Endocrinology and Metabolism.2014; 29(3): 394. CrossRef

Case Reports

Central Diabetes Insipidus Surmised as from Post-obstructive Diuresis after Decompression Treatment for Neurogenic Bladder.: Kang Woo Lee, Chul Woo Yang, Dong Jun Lim, Hyuk Sang Kwon, Mi Ja Kang, Eun Sook Kim, Kun Ho Yoon, Ho Young Son, Bong Yun Cha; J Korean Endocr Soc. 2009;24(2):144-147. Published online June 1, 2009; DOI: https://doi.org/10.3803/jkes.2009.24.2.144

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Abstract PDF

Post-obstructive diuresis after treatment for neurogenic bladder-induced obstructive kidney disease is a common symptom. As polyuria may develop in many other conditions as well, the present case is about a patient with a chief complaint of polyuria accompanied by nocturia, that was initially diagnosed as hydronephrosis due to the presence of neurogenic bladder and bladder dysfunction. The result of the water deprivation test, which was conducted for persistent diluted polyuria, yielded a final diagnosis of central diabetes insipidus, notwithstanding the strong impression of post-obstructive diuresis initially made because of a sudden increase in urine output after an indwelling catheter was inserted for bladder decompression.

Citations

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A Case of Septo-Optic Dysplasia Resulting in Central Diabetes Insipidus and Nonobstructive Bilateral Hydronephrosis
Jong Hyun Kim, Kwang Bok Lee, Jeonghun Lee, Soo Min Nam, Kang-Woo Lee, Eu Gene Hwang, Geon Gil
Korean Journal of Medicine.2014; 87(2): 209. CrossRef

A Case of Panhypopituitarism and Central Diabetes Insipidus Caused by Primary Central Nervous System Lymphoma.: Mi Sun Ahn, Soon Sun Kim, Tae Ho Kim, Seung Jin Han, Dae Jung Kim, Hugh Chul Kim, Se Hyuk Kim, Jae Ho Han, Ho Sung Kim, Yoon Sok Chung; J Korean Endocr Soc. 2008;23(4):260-265. Published online August 1, 2008; DOI: https://doi.org/10.3803/jkes.2008.23.4.260

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Abstract PDF: Primary central nervous system (CNS) lymphoma is an uncommon neoplasm. However, the incidence of primary CNS lymphoma has increased more than 10-fold over the past three decades, and continues to accelerate. Currently, primary CNS lymphoma represents 4 to 7 percent of all newly diagnosed primary CNS tumors. Primary CNS lymphoma may arise from different parts of the brain, with deep hemispheric periventricular white matter being the most common site of origin. The presenting symptoms in primary CNS lymphoma vary depending on the location of the mass. Involvement of the hypothalamic-pituitary axis may cause hypopituitarism, diabetes insipidus, headache, diplopia, and blurred vision.

A Case of Lymphocytic Infundibuloneurohypophysitis Along with Central Diabetes Insipidus, and this Improved with Conservative Care.: Ji Myoung Lee, Sang Mi Park, Byung Hee Hwang, Hyun Sook Choi, Seong Su Lee, Jee Young Kim, Sung Rae Kim, Kwang Woo Lee, Ho Young Son, Sung Koo Kang, Soon Jib Yoo; J Korean Endocr Soc. 2008;23(2):142-147. Published online April 1, 2008; DOI: https://doi.org/10.3803/jkes.2008.23.2.142

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Abstract PDF: Idiopathic central diabetes insipidus is most likely to occur in young patients who have a clinical history of autoimmune disease. The presentation of clinical findings such as central diabetes insipidus and pituitary stalk thickening on sellar magnetic resonance imaging (MRI) in a young women would strongly suggest lymphocytic hypophysitis, which is a rare inflammatory process involving the pituitary stalk and the pituitary gland, yet this disease can sometimes regress.

A Case of Central Diabetes Insipitus Combined with Septo-Optic Dysplasia and Schizencephaly in 31-year-old Woman.: Soo Kyoung Kim, Tae Sik Jung, Jong Ryeal Hahm, Sang Min Lee, Sung Won Moon, Kyeong Ju Lee, Soon Il Chung; J Korean Endocr Soc. 2007;22(5):339-343. Published online October 1, 2007; DOI: https://doi.org/10.3803/jkes.2007.22.5.339

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Abstract PDF

A 31-year-old woman was referred to our hospital for evaluation and management of poorly controlled epilepsy. The patient had been taking anti-epileptic drugs for six years. An MRI imaging study showed septo-optic dysplasia (SOD) and schizencephaly. SOD is a syndrome characterized by agenesis of the septum pellucidum or corpus callosum, optic nerve dysplasia and congenital hypothalamic-pituitary insufficiency. The patient was referred to the endocrine clinic for exclusion of any pituitary hormonal deficiencies. In a systemic review, the patient complained of polydipsia and polyuria for 20 years. In laboratory tests, measurements showed a serum osmolarity of 281 mOsm/kg, a serum sodium concentration of 144.7 mmol/L, a spot urine osmolarity of 183 mOsm/kg and a spot urine sodium concentration of 32 mmol/L. The patient underwent a water deprivation test, and was diagnosed with central diabetes insipidus. We report a case of central diabetes insipitus combined with SOD, schizencephaly and epilepsy.

Citations

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A Case of Septo-Optic Dysplasia Resulting in Central Diabetes Insipidus and Nonobstructive Bilateral Hydronephrosis
Jong Hyun Kim, Kwang Bok Lee, Jeonghun Lee, Soo Min Nam, Kang-Woo Lee, Eu Gene Hwang, Geon Gil
Korean Journal of Medicine.2014; 87(2): 209. CrossRef
A Case of Septo-optic Dysplasia Associated with Anterior Pituitary Hormone Abnormalities
Jin-Woo Lee, Eui-Kyung Hwang, Tae-Ho Kim, Hyung-Young Yoon, Jae Ho Jung, Yong Won Choi, Suk-Woo Yong, Jae-Hong Ahn, Sun-Yong Kim, Ho Sung Kim, Yoon-Sok Chung
Journal of Korean Endocrine Society.2009; 24(1): 33. CrossRef

A Case of Idiopathic Central Diabetes Insipidus together with Primary Empty Sella and Combined Pituitary Hormone Deficiency.: Sun Young Ahn, Kyu Hwan Bae, Myung Hwan Kim, Ji Hyun Lee, Ho Sang Shon, Eui Dal Jung; J Korean Endocr Soc. 2007;22(4):272-276. Published online August 1, 2007; DOI: https://doi.org/10.3803/jkes.2007.22.4.272

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Abstract PDF: Central diabetes insipidus is a heterogeneous condition that is characterized by polyuria and polydipsia, and this is due to a deficiency of arginine vasopressin. Central diabetes insipidus is rare in children and young adults, and up to 50 percent of cases are idiopathic. Genetic abnormalities in the homeobox genes have recently been shown, on sellar magnetic resonance imaging, to be associated with combined pituitary hormone deficiency with pituitary defect. We report here on a 44-year-old female who suffered from polydipsia, polyuria and primary amenorrhea since childhood. She was diagnosed with idiopathic central diabetes insipidus together with primary empty sella and combined pituitary hormone deficiency. On the genetic analysis, she was proven to have a point mutation of the PROP-1 gene, which is known as a cause of combined pituitary hormone deficiency.

A Case of Pituitary Metastasis of Breast Cancer Presenting as Diabetes Insipidus and Panhypopituitarism.: Jae Wuk Kwak, Byung Soo Jie, Sun Hwa Hong, Ji Hyun Kim, Seung Hwan Lee, Jae Hyung Jo, Hyuk Sang Kwon, Kun Ho Youn, Bong Yun Cha, Ho Young Son; J Korean Endocr Soc. 2007;22(2):125-129. Published online April 1, 2007; DOI: https://doi.org/10.3803/jkes.2007.22.2.125

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Metastasis to the pituitary gland from systemic cancer is a rare condition. The breast and lung are the most common sites of primary tumor metastasis. Pituitary metastasis may present with diabetes insipidus, cranial nerve palsy and hypopituitarism, and diabetes insipidus is the most frequent symptom at presentation. We report here on a 44 year-old woman with pituitary metastasis from breast cancer, and she developed central diabetes insipidus and hypopituitarism. The clinical diagnosis was made by performing a water deprivation test, a combined pituitary test and a MRI brain scan, and the latter showed metastatic tumor in the pituitary gland with invasion of the pituitary stalk. Symptomatic relief was obtained with administration of desmopressin; the urine osmolarity was increased with this treatment. We report here on a case of pituitary metastasis from breast cancer and the patient developed central diabetes insipidus and hypopituitarism. We also include a review of the relevant literature.

Citations

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A Case of Pituitary Metastasis from Breast Cancer That Presented as Left Visual Disturbance
Young Ha Kim, Beom jun Lee, Kyung Jin Lee, Jin Hee Cho
Journal of Korean Neurosurgical Society.2012; 51(2): 94. CrossRef
A Case of Panhypopituitarism and Central Diabetes Insipidus Caused by Primary Central Nervous System Lymphoma
Mi Sun Ahn, Soon Sun Kim, Tae Ho Kim, Seung Jin Han, Dae Jung Kim, Hugh Chul Kim, Se Hyuk Kim, Jae Ho Han, Ho Sung Kim, Yoon-Sok Chung
Journal of Korean Endocrine Society.2008; 23(4): 260. CrossRef

A Novel Mutation of the Vasopressin-Neurophysin II Gene in a Familial Neurohypophyseal Diabetes Insipidus.: Mi Jung Kim, Byung Wan Lee, In Kyung Jeong, Jun Goo Kang, Seong Jin Lee, Eun Gyung Hong, Hyeon Kyu Kim, Doo Man Kim, Jae Myung Yoo, Sung Hee Ihm, Moon Gi Choi, Hyung Joon Yoo; J Korean Endocr Soc. 2007;22(2):118-124. Published online April 1, 2007; DOI: https://doi.org/10.3803/jkes.2007.22.2.118

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Abstract PDF: Autosomal dominant familial neurohypophyseal diabetes insipidus (adFNDI) is a rare form of central diabetes insipidus (DI), and this malady is clinically characterized by polydipsia and polyuria, and it is caused by mutation in the vasopressin-neurophysin II. We identified a Korean family that suffered with adFNDI and we found a novel mutation in the NP II molecule. The index subject's DI symptoms dated to childhood, and his familial history was consistent with autosomal transmission. The diagnosis of central DI was done by performing a water deprivation test and a vasopressin challenge test. For molecular analysis, the genomic DNA was extracted and the AVP-NP II gene was amplified by polymerase chain reaction from four clinically-affected members and seven clinically-nonaffected members. Genetic analysis of AVP-NP II revealed new a heterozygous missense mutation in exon 2 of the AVP-NP II gene (+1692C > A) and this amino acid substitution (Cys105Stop) was predicted to have occurred in four clinically-affected subjects. In summary, in the present study we have described a novel mutation of the AVP-NPII gene in a Korean family suffering with adFNDI.

Original Article

Retrospective Observation of Long-Term Clinical Courses of Idiopathic Central Diabetes Insipidus in Adults.: Hee Joung Kim, Mi Yeon Kang, Kyung Won Kim, Hyun Seung Jeong, Hae Sung Kim, Sang Wan Kim, Seong Yeon Kim; J Korean Endocr Soc. 2006;21(6):482-489. Published online December 1, 2006; DOI: https://doi.org/10.3803/jkes.2006.21.6.482

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BACKGROUND
Idiopathic central diabetes insipidus (CDI) can be diagnosed when it occurs in the absence of a genetic or secondary cause known to be responsible for diabetes insipidus (DI). Some studies have reported that idiopathic CDI in adults shows a more benign clinical course than in children and young patients. However, the clinical characteristics and progress of this disorder have not been fully described. Therefore, we investigated the clinical courses of adult patients over the age of sixteen years with idiopathic central DI. METHODS: We reviewed the medical records of all patients who had documented cases of idiopathic CDI from 1989 to 2005, and studied clinical features, hormone data, and imaging studies at diagnosis and during at least 1-year of follow-up. RESULTS: There were 9 male (30.0%) and 21 female (70.0%) patients with a mean age of 39.3 years at diagnosis and a mean follow-up duration of 6.9 years. At diagnosis, deficits in anterior pituitary hormones were documented in 6 patients (20%), hyperprolactinemia in 4, and hypogonadism in 2. Two patients had an anterior pituitary hormone deficiency that was newly detected at a mean 3.4 years after the onset of DI. On initial MRI, the posterior pituitary was not hyperintense in 7 of the 30 patients (23.3%), but pituitary stalk thickening was observed in 15 (50.0%). After a mean follow-up of 6.9 years (range: 1 to 18), follow-up pituitary MRI showed improvement or no changes in patients with initial MRI findings of a pituitary abnormality, and no development of new lesions in 7 patients with a normal pituitary finding on initial MRI. CONCLUSION: Two of the 30 patients with idiopathic CDI developed an anterior pituitary hormone deficiency during follow-up, but no subject showed any aggravation on follow-up MRI. No patient showed a newly developed pituitary abnormality on follow-up MRI after a negative finding on the initial MRI.

Citations

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Central Diabetes Insipidus Surmised as from Post-obstructive Diuresis after Decompression Treatment for Neurogenic Bladder
Kang-Woo Lee, Chul-Woo Yang, Dong-Jun Lim, Hyuk-Sang Kwon, Mi-Ja Kang, Eun-Sook Kim, Kun-Ho Yoon, Ho-Young Son, Bong-Yun Cha
Journal of Korean Endocrine Society.2009; 24(2): 144. CrossRef

Case Reports

A Case of Sheehan's Syndrome Presenting Central Diabetes Insipidus.: Dong Jin Kim, Nan Hee Kim, Ju Ri Park, Sae Jeong Yang, Hye Suk Kim, Hye Jin Yoo, Soo Yeon Park, Ohk Hyun Ryu, Kye Won Lee, Hee Young Kim, Ji A Seo, Sin Gon Kim, Kyung Mook Choi, Sei Hyun Baik, Dong Seop Choi; J Korean Endocr Soc. 2006;21(4):333-337. Published online August 1, 2006; DOI: https://doi.org/10.3803/jkes.2006.21.4.333

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Abstract PDF: Sheehan's syndrome occurs as a result of ischemic pituitary necrosis due to severe postpartum hemorrhage. The manifestations of this clinical syndrome are most often caused by a deficiency in the hormones produced by the anterior pituitary gland, whereas the neurohypophysis is usually preserved but can be involved in severe cases that manifest as diabetes insipidus. This is a report of Sheehan's syndrome that manifested with diabetes insipidus as presenting symptom 2 month's after delivery. The patient suffered massive bleeding, so received a blood transfusion. A combined pituitary stimulation and water deprivation test revealed deficiencies of not only anterior pituitary hormones, such as growth hormone and prolactin, but also of anti-diuretic hormone. We report this case, with a review of the literature.

A Case of Langerhans Cell Histiocytosis Presented with Central Diabetes Insipidus.: Byung Chul Kim, Mi Yeoun Lee, Young Kue Kim, Ok Jun Lee, Sung Soo Koong, Tae Keun Oh; J Korean Endocr Soc. 2005;20(5):513-518. Published online October 1, 2005; DOI: https://doi.org/10.3803/jkes.2005.20.5.513

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Abstract PDF

Langerhans cell histiocytosis can cause central diabetes insipidus. Here, a case of Langerhans cell histiocytosis invading the pituitary stalk was experienced. The patient was 15 years old boy, with complaint of polydipsia and polyuria. A water deprivation test was carried out, and the urine osmolarity was increased from 165 to 469 mosm/kg following an injection of AVP to confirm the diagnosis of central diabetes insipidus. A pituitary function stimulation test gave a normal response. A sellar MRI was performed, which showed a thickened pituitary stalk mass (about 5.7mm), with an increased size, 6.9 mm, on a second MRI 2 month later. A tissue biopsy was performed, which showed aggregates of histiocytes and inflammatory cells, with prominent eosinophils (H&E), and also revealed strong reactivity to anti-CD1a antibody on the immunohistochemistry. After confirmative tissue diagnosis, the patient received radiotherapy (900 cGy). The thickened mass of the pituitary stalk disappeared on the MRI following the radiotherapy. The patient was managed with DDAVP nasal spray, after which the polyuric symptoms were completely relieved.

Citations

Citations to this article as recorded by

Adult Multisystem Langerhans Cell Histiocytosis Presenting with Central Diabetes Insipidus Successfully Treated with Chemotherapy
Jung-Eun Choi, Hae Ri Lee, Jung Hun Ohn, Min Kyong Moon, Juri Park, Seong Jin Lee, Moon-Gi Choi, Hyung Joon Yoo, Jung Han Kim, Eun-Gyoung Hong
Endocrinology and Metabolism.2014; 29(3): 394. CrossRef
Clinical Characteristics of Langerhans Cell Histiocytosis with Hypothalamo-Pituitary Involvement
Eun Shil Hong, Jung Hun Ohn, Jung Hee Kim, Yul Hwang-Bo, Jin Joo Kim, Jung Hee Kwon, Jung Won Lee, Se Youn Choi, Eun Kyung Lee, Sun Wook Cho, Chan Soo Shin, Kyong Soo Park, Hak Chul Jang, Bo Youn Cho, Hong Kyu Lee, Choong Ho Shin, Sei Won Yang, Seong Yeon
Endocrinology and Metabolism.2011; 26(1): 38. CrossRef
A Case of Idiopathic Central Diabetes Insipidus together with Primary Empty Sella and Combined Pituitary Hormone Deficiency
Sun Young Ahn, Kyu Hwan Bae, Myung Hwan Kim, Ji Hyun Lee, Ho Sang Shon, Eui Dal Jung
Journal of Korean Endocrine Society.2007; 22(4): 272. CrossRef

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