THE DIFFERENTIAL DIAGNOSIS OF PITUITARY STALK THICKENING

2019 ◽  
Vol 25 (6) ◽  
pp. 616-618
Author(s):  
Roberto Salvatori
Author(s):  
Giuseppa Patti ◽  
Flavia Napoli ◽  
Daniela Fava ◽  
Emilio Casalini ◽  
Natascia Di Iorgi ◽  
...  

Abstract Central diabetes insipidus (CDI) is a complex disorder in which large volumes of dilute urine are excreted due to arginine-vasopressin deficiency, and it is caused by a variety of disorders affecting the hypothalamic-posterior pituitary network. The differential diagnosis is challenging and requires a detailed medical history, physical examination, biochemical approach, imaging studies and, in some cases, histological confirmation. Magnetic resonance imaging is the gold standard method for evaluating congenital or acquired cerebral and pituitary stalk lesions. Pituitary stalk size at presentation could be normal, but it may change over time, depending on the underlying condition, while other brain areas or organs may become involved during follow up. Early diagnosis and treatment are crucial in order to avoid central nervous system damage, germ cell tumor dissemination, and to minimize complications of multiple pituitary hormone defects. We provide a practical update on the diagnosis and management of patients with CDI and highlight several pitfalls that may complicate the differential diagnosis of conditions presenting with polyuria and polydipsia. The need for a careful and close follow-up of patients with “apparently” idiopathic CDI is particularly emphasized, because the underlying condition may be recognized over time. The clinical scenario that we outline at the beginning of this article represents the basis for the discussion about how the etiological diagnosis of CDI can be overlooked, and demonstrates how a water intake and urine output improvement can be a sign of progressive damage of both hypothalamus and anterior pituitary gland with associated pituitary hormonal deficiencies.


2020 ◽  
Author(s):  
Wanlu Ma ◽  
Xi Wang ◽  
jiangfeng mao ◽  
Min Nie ◽  
Xueyan Wu

Abstract Background Pituitary stalk interruption syndrome (PSIS) is a rare congenital pituitary anatomical disorder. Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is characterized by congenital absence of the uterus, cervix, and part of the vagina in phenotypically normal 46, XX females. Case presentation A young woman was initially diagnosed as MRKH syndrome based on primary amenorrhea, 46, XX karyotype, and absence of uterus or vagina. Further investigation revealed breech delivery, short stature, hypogonadotropic hypogonadism, interrupted pituitary stalk on pituitary MRI, which led to the diagnosis of PSIS. After a 12-month treatment with estradiol, no signs of uterus or vagina were found on pelvic computed tomography.Conclusions We highlight the importance of considering PSIS in the differential diagnosis of suspected MRKH syndrome in prepubertal girls or girls with delayed or absent puberty, when no uterus is visualized on imaging.


2004 ◽  
Vol 67 (1/2) ◽  
pp. 227-231 ◽  
Author(s):  
M. Capra ◽  
D. Wherrett ◽  
S. Weitzman ◽  
P. Dirks ◽  
C. Hawkins ◽  
...  

2019 ◽  
Vol 104 (8) ◽  
pp. 3419-3427 ◽  
Author(s):  
Xiang Zhou ◽  
Huijuan Zhu ◽  
Yong Yao ◽  
Xin Lian ◽  
Feng Feng ◽  
...  

2018 ◽  
Vol 20 (suppl_2) ◽  
pp. i83-i83
Author(s):  
Maggie Skrypek ◽  
Anastasia Brown ◽  
Julie Pape-Blabolil ◽  
Charles Bendelsmith ◽  
Sachin Patel ◽  
...  

2020 ◽  
Vol 79 (12) ◽  
pp. 1313-1319
Author(s):  
Anandani Nellan ◽  
Avery Bodlak ◽  
David M Mirsky ◽  
Jean Mulcahy Levy ◽  
Timothy P Garrington ◽  
...  

Abstract Langerhans cell histiocytosis (LCH) is an inflammatory myeloid neoplasia with a highly variable clinical presentation affecting people of all ages. Mutations in BRAF V600E are the most identifiable molecular alteration in LCH although its incidence in pediatric patients with isolated pituitary stalk involvement is not well described. Pediatric patients with LCH and isolated pituitary stalk involvement typically present with central diabetes insipidus. Diagnosis requires a transcranial biopsy which often yields scant tissue. We sought to determine the prevalence of BRAF V600E mutations in patients with isolated pituitary stalk LCH using digital droplet polymerase chain reaction because this method requires minimal tumor DNA. We identified 8 patients with isolated pituitary stalk thickening who underwent a biopsy at Children’s Hospital Colorado from January 2001 to December 2019, as well as 6 patients with systemic LCH diagnosed by biopsy in the same period as a comparison. Only one out of the 8 patients with isolated thickened pituitary stalk was found to have a detectable BRAF V600E mutation. Five out of the 6 patients with systemic LCH had a detectable BRAF V600E mutation. In our series, BRAF V600E mutations are rare in pediatric patients with LCH and isolated pituitary stalk involvement.


2016 ◽  
Author(s):  
Emilia Sbardella ◽  
Robin N Joseph ◽  
Bahram Jafar-Mohammadi ◽  
Andrea M Isidori ◽  
Simon Cudlip ◽  
...  

2011 ◽  
Vol 96 (9) ◽  
pp. E1352-E1360 ◽  
Author(s):  
Isis Marchand ◽  
Mohamed Aziz Barkaoui ◽  
Catherine Garel ◽  
Michel Polak ◽  
Jean Donadieu ◽  
...  

Abstract Context: Isolated central diabetes insipidus (CDI) can be the first manifestation of Langerhans cell histiocytosis (LCH), creating diagnostic dilemmas such as dysgerminoma and other inflammatory lesions. Method: In 2010, the French national LCH registry had enrolled 1236 LCH patients under 18 yr of age. Isolated CDI was the initial presentation of LCH in 26 patients. We reviewed their clinical and magnetic resonance imaging (MRI) features. Results: Median age at the diagnosis of CDI was 9.6 yr (1.8–16.3), and median follow-up after CDI diagnosis was 9.9 yr (3.5–26.6). In addition to CDI, two patients had visual field defects, four had secondary amenorrhea, and 11 had anterior pituitary deficiency. Cerebral imaging (including computed tomography in two cases), performed in 22 patients within 3 months of CDI diagnosis, showed pituitary stalk thickening in 14 patients, which was moderate (3.0–7 mm) in nine cases and marked (>7 mm) in five cases. In eight cases, the lesion extended to the floor of the third ventricle. One child with LCH presented with a mild enlarged sellar content. During follow-up, 22 patients developed extrapituitary involvement, mainly of bone (n = 15), lung (n = 9), and skin (n = 9). Pituitary biopsy was performed in eight cases and was conclusive in six cases. Conclusions: Pituitary stalk thickening can be observed in LCH as well as lesions extending to the floor of the third ventricle. In all cases but one, the intrasellar content was not enlarged. Long-term follow-up with close attention to bone, skin, and lung disorders may lead to the diagnosis of LCH.


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