Partial Improvement of Anterior Pituitary Deficiency Following Steroid Treatment in a Patient with Neurosarcoidosis Accompanied by Central Diabetes Insipidus

Abstract Context Deficient anterior pituitary with variable immune deficiency (DAVID) syndrome is a recently described, rare disorder characterized by anterior pituitary hormone deficiencies and common variable immunodeficiency associated with NFKB2 mutations. Posterior pituitary hormone deficiencies have not been reported in patients with DAVID syndrome. Case Description We report a pediatric patient who initially presented with hypogammaglobulinemia and alopecia totalis, who was identified to have a de novo NFKB2 mutation at one year of age. He developed central diabetes insipidus and central adrenal insufficiency at three and four years of age, respectively. At seven years of age, he had not developed GH or TSH deficiencies. Whole exome sequencing ruled out known genetic causes of central diabetes insipidus, adrenal insufficiency, and hypopituitarism. Conclusion This is a report of central diabetes insipidus in a patient with DAVID syndrome caused by an NFKB2 mutation. This case report expands the evolving endocrine phenotype associated with NFKB2 mutations beyond anterior pituitary deficiencies.

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Predictor Variables of Developing Anterior Pituitary Deficiencies in a Group of Paediatric Patients with Central Diabetes Insipidus and Langerhans Cell Histiocytosis

Hormone Research in Paediatrics ◽

10.1159/000452996 ◽

2016 ◽

Vol 87 (1) ◽

pp. 51-57 ◽

Cited By ~ 2

Author(s):

Elisa Vaiani ◽

Carmen Malossetti ◽

Lina Margarita Vega ◽

Pedro Zubizarreta ◽

Jorge Braier ◽

...

Keyword(s):

Diabetes Insipidus ◽

Anterior Pituitary ◽

Langerhans Cell Histiocytosis ◽

Langerhans Cell ◽

Central Diabetes Insipidus ◽

Predictor Variables ◽

Paediatric Patients

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Anterior Pituitary Dysfunction in Children with Idiopathic Central Diabetes Insipidus

Clinical Pediatric Endocrinology ◽

10.1297/cpe.4.supple6_109 ◽

1995 ◽

Vol 4 (Supple6) ◽

pp. 109-114

Author(s):

Yoko Nomura ◽

Kazumichi Onigata ◽

Ryo Ogawa ◽

Tomohisa Nagashima ◽

Hiroshi Miyake ◽

...

Keyword(s):

Diabetes Insipidus ◽

Anterior Pituitary ◽

Central Diabetes Insipidus ◽

Pituitary Dysfunction

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Unmasking of Central Diabetes Insipidus in a Patient After Steroid Treatment

CHEST Journal ◽

10.1378/chest.1387937 ◽

2012 ◽

Vol 142 (4) ◽

pp. 324A ◽

Cited By ~ 2

Author(s):

Hetalben Patel ◽

Phillip Augustine ◽

Richard Fremont

Keyword(s):

Diabetes Insipidus ◽

Steroid Treatment ◽

Central Diabetes Insipidus

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Endocrine Outcomes In Central Diabetes Insipidus: the Predictive Value of Neuroimaging “Mismatch Pattern”

The Journal of Clinical Endocrinology & Metabolism ◽

10.1210/clinem/dgaa540 ◽

2020 ◽

Vol 105 (11) ◽

Author(s):

Deborah Bianco ◽

Flavia Napoli ◽

Giovanni Morana ◽

Angela Pistorio ◽

Anna Elsa Maria Allegri ◽

...

Keyword(s):

Pituitary Gland ◽

Diabetes Insipidus ◽

Contrast Enhancement ◽

Anterior Pituitary ◽

Magnetic Resonance Images ◽

Central Diabetes Insipidus ◽

Pituitary Hormone ◽

Gland Size ◽

Pituitary Dysfunction

Abstract Context The etiology of central diabetes insipidus (CDI) in children is often unknown. Clinical and radiological features at disease onset do not allow discrimination between idiopathic forms and other conditions or to predict anterior pituitary dysfunction. Objective To evaluate the evolution of pituitary stalk (PS) thickening and the pattern of contrast-enhancement in relation with etiological diagnosis and pituitary function. Methods We enrolled 39 children with CDI, 29 idiopathic and 10 with Langerhans cell histiocytosis (LCH). Brain magnetic resonance images taken at admission and during follow-up (332 studies) were examined, focusing on PS thickness, contrast-enhancement pattern, and pituitary gland size; T2-DRIVE and postcontrast T1-weighted images were analyzed. Results Seventeen of 29 patients (58.6%) with idiopathic CDI displayed “mismatch pattern,” consisting in a discrepancy between PS thickness in T2-DRIVE and postcontrast T1-weighted images; neuroimaging findings became stable after its appearance, while “mismatch” appeared in LCH patients after chemotherapy. Patients with larger PS displayed mismatch more frequently (P = 0.003); in these patients, reduction of proximal and middle PS size was documented over time (P = 0.045 and P = 0.006). The pituitary gland was smaller in patients with mismatch (P < 0.0001). Patients with mismatch presented more frequently with at least one pituitary hormone defect, more often growth hormone deficiency (P = 0.033). Conclusions The PS mismatch pattern characterizes patients with CDI, reduced pituitary gland size, and anterior pituitary dysfunction. The association of mismatch pattern with specific underlying conditions needs further investigation. As patients with mismatch show stabilization of PS size, we assume a prognostic role of this peculiar pattern, which could be used to lead follow-up.

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Central Diabetes Insipidus in Infancy With or Without Hypothalamic Adipsic Hypernatremia Syndrome: Early Identification and Outcome

The Journal of Clinical Endocrinology & Metabolism ◽

10.1210/jc.2015-3108 ◽

2016 ◽

Vol 101 (2) ◽

pp. 635-643 ◽

Cited By ~ 11

Author(s):

Adel Djermane ◽

Monique Elmaleh ◽

Dominique Simon ◽

Amélie Poidvin ◽

Jean-Claude Carel ◽

...

Keyword(s):

Diabetes Insipidus ◽

Rare Complication ◽

Central Diabetes Insipidus ◽

University Hospital ◽

Neurodevelopmental Delay ◽

Hyperintense Signal ◽

Vulnerable Patients ◽

Brain Malformations ◽

Pituitary Deficiency

Context: Neonatal central diabetes insipidus (CDI) with or without adipsia is a very rare complication of various complex hypothalamic disorders. It is associated with greater morbidity and a high risk of developing both hypernatremia and hyponatremia, due to the condition itself or secondary to treatment with vasopressin analogs or fluid administration. Its outcomes have yet to be evaluated. Objective: To investigate the clinical outcomes of patients with neonatal-onset CDI or adipsic CDI with hypernatremia. Design, Setting, and Participants: All patients diagnosed with neonatal CDI in a university hospital-based observational study and followed between 2005 and 2015 were included and analyzed retrospectively. Main Outcome Measures: The various causes of CDI were grouped. Clinical outcome and comorbidities were analyzed. Results: Ten of the 12 patients had an underlying condition with brain malformations: optic nerve hypoplasia (n = 3), septo-optic dysplasia (n = 2), semilobar holoprosencephaly (n = 1), ectopic neurohypophysis (n = 3), and unilateral absence of the internal carotid artery (n = 1). The other two were idiopathic cases. During the median follow-up period of 7.8 (4.9–16.8) years, all but one patient displayed anterior pituitary deficiency. Transient CDI was found in three (25%) patients for whom a posterior pituitary hyperintense signal was observed with (n = 2) and without (n = 1) structural hypothalamic pituitary abnormalities, and with no other underlying cerebral malformations. Patients with permanent CDI with persistent adipsia (n = 4) and without adipsia (n = 5) required adequate fluid intake and various doses of desamino-D-arginine-8-vasopressin. Those with adipsia were more likely to develop hypernatremia (45 vs 33%), hyponatremia (16 vs 4%) (P < .0001), and severe neurodevelopmental delay (P < .05) than those without adipsia. Comorbidities were common. The underlying cause remains unknown at the age of 23 years for one patient with CDI and normal thirst. Conclusion: Neonatal CDI may be transient or permanent. These vulnerable patients have high rates of comorbidity and require careful monitoring.

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SUN-282 Transient Infundibulohypophysitis in a Child with Central Diabetes Insipidus

Journal of the Endocrine Society ◽

10.1210/jendso/bvaa046.693 ◽

2020 ◽

Vol 4 (Supplement_1) ◽

Author(s):

Shabana Kalladi Puthanpurayil ◽

Ahsan Uddin ◽

Peter Matthew Gerrits

Keyword(s):

Diabetes Insipidus ◽

Anterior Pituitary ◽

Elevated Serum ◽

Central Diabetes Insipidus ◽

Pituitary Stalk ◽

Bright Spot ◽

Neoplastic Process ◽

Anterior Pituitary Function ◽

History Of ◽

Pituitary Stalk Thickening

Abstract Case Description A 7-year-old previously healthy female presented with a 1-month history of tiredness, excessive thirst and increased urinary frequency. Initial studies showed an elevated serum osmolality with relatively dilute urine. She underwent a water deprivation study which confirmed central diabetes insipidus (CDI). An MRI of the brain was obtained which showed markedly thickened and homogeneously enhancing pituitary stalk thickening (17mm craniocaudal x10 mm anteroposterior diameter). Workup did not reveal any signs suggestive of Langerhan’s cell histiocytosis; a skin biopsy and bone survey were normal. A pituitary stalk biopsy was scheduled, however direct endoscopic visualization of the pituitary stalk was normal, so the procedure was aborted. A repeat MRI 7 weeks later showed complete resolution of the stalk thickening. An MRI done 4 months later again showed normal anterior pituitary and normal pituitary stalk, with persistent absent posterior bright spot. She remains on desmopressin, and anterior pituitary functions have been normal to date. Discussion CDI in children can be due to infectious, neoplastic, traumatic or genetic processes that disrupt the hypothalamus or pituitary stalk. One third of children with CDI present with pituitary stalk thickening (PST) on initial evaluation with MRI. There are wide variations in the degree of PST. Previous studies have shown that the degree of PST is different depending on the underlying etiology. Furthermore, regression of PST has been observed in many cases of CDI with PST which has been attributed to idiopathic or autoimmune process (infundibulohypophysitis). Most studies have demonstrated that PST > 4 mm is unlikely to regress and may be more likely to progress with eventual diagnosis of a neoplastic process such as germinoma or Langerhan’s cell histiocytosis. Based on review of the literature, the earliest resolution of PST was in 3 months in a patient who received steroid therapy at diagnosis. [1] Conclusion Our case illustrates that in children with central diabetes insipidus, isolated pituitary stalk thickening may resolve in as short a period as 7 weeks. While ongoing evaluation is warranted with serial pituitary imaging, unnecessary invasive procedures may be avoided in patients without evidence of other underlying anatomic pathology. Anterior pituitary function requires initial and continued surveillance. References 1. Shaefers J et al. Clinical presentation and outcome of children with central diabetes insipidus associated with a self-limited or transient pituitary stalk thickening, diagnosed as infundibuloneurohypophysitis. Clin Endocrinol (Oxf). 2017 Aug;87(2):171-176. doi: 10.1111/cen.13362. Epub 2017 Jun 5.

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Central diabetes insipidus: clinical profile that suggests organicity in Peruvian children: Lima – Peru 2001–2013

Journal of Pediatric Endocrinology and Metabolism ◽

10.1515/jpem-2016-0140 ◽

2016 ◽

Vol 29 (12) ◽

Author(s):

Miguel Angel De los Santos ◽

Carlos Manuel Del Águila ◽

Maria Isabel Rojas ◽

Juan Manuel Falen ◽

Oswaldo Nuñez ◽

...

Keyword(s):

Diabetes Insipidus ◽

Anterior Pituitary ◽

Clinical Characteristics ◽

Pediatric Patients ◽

Descriptive Analysis ◽

Central Diabetes Insipidus ◽

Cross Sectional ◽

Significant Difference ◽

Daily Dose ◽

Visual Disturbances

Abstract Background: Central diabetes insipidus (CDI) is a heterogeneous disease caused by arginine vasopressin deficiency; its management implies a profound understanding of the pathophysiology and the clinical spectrum. The aim of the study was to describe the clinical characteristics that indicate organicity in children and adolescents with central diabetes insipidus treated at the Department of Endocrinology from The Child Health’s Institute during 2001 to 2013. Methods: Cross-sectional, retrospective study. 79 cases of patients diagnosed with CDI (51 males and 28 females) from 1 month to 16 years of age were reviewed. For the descriptive analysis, measures of central tendency and dispersion were used; groups of organic and idiopathic CDI were compared using χ Results: The average age of patients was 8.1±4.2 years. Organic causes were intracranial tumors, 44 (55.7%), Langerhans cell histiocytosis (LCH), 11 (13.9%) and cerebral malformations in 7 (8.9%) patients, while the idiopathic group was 14 (17.7%) patients. Regarding clinical characteristics suggestive of organicity, headache (p=0.02) and visual disturbances (p=0.01) were found statistically significant. The anterior pituitary hormonal abnormalities were documented in 34 (52.3%) organic CDI patients. Furthermore, we did not find a significant difference in the average daily dose of desmopressin between patients with permanent vs. transitory CDI (0.81±0.65 vs. 0.59±0.62; p=0.363). Conclusions: The main clinical features suggestive of organicity in pediatric patients with central diabetes insipidus were headache and visual disturbances; furthermore, anterior pituitary hormonal abnormalities suggest an underlying organic etiology.

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