scholarly journals RARE-11. SELLAR GERMINOMA MASQUERADING FOR SIX YEARS AS AUTOIMMUNE HYPOPHYSITIS IN A 16-YEAR-OLD GIRL WITHOUT DIABETES INSIPIDUS

2019 ◽  
Vol 21 (Supplement_6) ◽  
pp. vi223-vi223
Author(s):  
Maya Hrachova ◽  
Mari Perez Rosenthal ◽  
Kong Xiao-Tang
Keyword(s):  
Diabetes Insipidus ◽  
Hormone Replacement ◽  
Optic Chiasm ◽  
Growth Delay ◽  
Primary Amenorrhea ◽  
Pituitary Mass ◽  
Autoimmune Hypophysitis ◽  
Histopathological Features ◽  
Beta Hcg ◽  
Suprasellar Region

Abstract INTRODUCTION Germinomas are rare malignant intracranial neoplasms which most commonly occur in young males in the pineal and suprasellar region. Less commonly, germinomas arise in the sellar region, where there is slight female predominance. Diagnostic challenges may arise, as autoimmune hypophysitis has similar clinical, imaging and histopathological features to germinoma. CASE REPORT: A 16-year-old girl (46, XX) presented with primary amenorrhea, failure of sexual development and growth delay. Stimulation tests confirmed panhypopituitarism except diabetes insipidus. Infectious and rheumatological workup was negative. She had normal levels of beta HCG, CEA and alpha-fetoprotein. MRI brain identified an enhancing hypothalamic pituitary stalk and pituitary mass. A biopsy was performed which showed a lymphocyte rich infiltration of the pituitary gland, suggesting autoimmune hypophysitis. She completed 4 cycles of low dose methotrexate weekly and remained on hormone replacement therapy for panhypopituitarism for three years until she developed daily headaches, blurry vision, and secondary amenorrhea. MR imaging showed increased nodularity at the pituitary infundibulum with involvement of the optic chiasm. This lesion progressed on mycophenolic acid, increased doses of hydrocortisone, high doses of prednisone and IV methylprednisolone. She was unable to tolerate azathioprine and rituximab after one year. Subsequently, she underwent partial resection of the suprasellar lesion with the pathology showing germinoma admixed with abundant lymphohistiocytic inflammation. A nongerminomatous component was not present histologically and CSF only showed an elevated beta HCG. Given that the tumor is localized to the central nervous system she is receiving treatment via SIOP CNS GCT 96 protocol. DISCUSSION Autoimmune hypophysitis and germinoma can share similar clinical, radiological and histopathological features. Our case demonstrates the need for careful histologic examination, close clinical and radiological follow up in patients with lymphocyte-rich suprasellar lesions if no response to immunosuppressant therapy is noted.

scholarly journals A Case of Pituitary Germinoma With Complete Recovery of Visual Field

2021 ◽  
Vol 5 (Supplement_1) ◽  
pp. A561-A562
Author(s):  
Majid Alameri ◽  
Hessa Boharoon ◽  
Abdulla Mohamed Alnuaimi ◽  
Florian Wernig ◽  
Michael Seckl ◽  
...  
Keyword(s):  
Cerebrospinal Fluid ◽  
Visual Field ◽  
Diabetes Insipidus ◽  
Visual Loss ◽  
Hormone Replacement ◽  
Tumour Marker ◽  
Tumour Markers ◽  
Optic Chiasma ◽  
Excellent Outcome ◽  
Suprasellar Region

Abstract Central nervous system germ cell tumours (GCTs) are rare, accounting for 0.1-3.4% of all primary brain malignancies. Intracranial GCTs (ICGCTs) usually arise within the pineal recess (50-65%), sellar-suprasellar region (25-35%) and rarely in the basal ganglia-thalamus (5-10%). A peakonset occurs during the second decade of life with a median age at diagnosis between10-12 years and a male predominance. Histologically, ICGCTs are classified into germinomas accounting for two thirds of cases and non-germinomatous GCTs. ICGCTs present with clinical features dependent on their location and tumour size. Symptoms most often arise from compressed optic structures, increased intracranial pressure and central endocrine abnormalities, particularly diabetes insipidus (DI). Clinical findings combined with elevated tumour marker levels within the serum and/or cerebrospinal fluid (CSF) can be diagnostic. Case: A 30-year-old lady who survived a childhood leukaemia presented as an emergency with a two-month history of headaches, dizziness and near-complete visual loss. Cranial MRI identified a large sellar mass with suprasellar extension compressing the optic chiasma and hypothalamus. Biochemical and endocrine profiles confirmed diabetes insipidus, hypocortisolaemia and hypothyroidism all requiring hormone replacement. Visual field examination revealed total left visual loss and a right temporal hemianopia. Cerebrospinal fluid analysis identified an elevated human chorionic gonadotropin (HCG) level at 16 IU/L (normal <2), with a normal alpha-fetoprotein (AFP) level. Both tumour markers were normal in the serum. Emergency Etoposide-Cisplatin (Em-EP) chemotherapy was initiated for a suprasellar GCT followed by the EPOMB-ITMTX regimen [Etoposide-Cisplatinwith intrathecal Methotrexate (ITMTX) alternating with Vincristine-Methotrexate-Bleomycin]. After four cycles EPOMB-ITMTX, the vision was fully restored, brain MRI demonstrated an excellent radiological response and the CSF HCG normalised. Our patient received volumetric-modulated arc cranial radiotherapy (VMAT) with a total 54 Gy in 16 fractions. She remains well without disease recurrence for 14 months. Tumour markers are normal with stable MRI brain and whole-spine. Endocrine follow-up confirms recovery in all pituitary axes except the gonadotrophins for which she remains on hormone replacement therapy. Conclusion: This case demonstrates an excellent outcome for a young adult diagnosed with a suprasellar GCT treated with chemotherapy followed by stereotactic radiotherapy. It highlights the importance in keeping a high clinical index of suspicion in young adults presenting with a midline intracranial tumour, visual dysfunction and an endocrinopathy. CSF analysis identified an elevated tumour marker level, which bypasses the need for a histological diagnosis.

scholarly journals A Case of Rathke’s Cleft Cyst Associated with Transient Central Adrenal Insufficiency and Masked Diabetes Insipidus

2014 ◽  
Vol 2014 ◽  
pp. 1-6
Author(s):  
Masahiro Asakawa ◽  
Rina Chin ◽  
Yoshihiro Niitsu ◽  
Tetsuo Sekine ◽  
Arisa Niwa ◽  
...  
Keyword(s):  
Diabetes Insipidus ◽  
Adrenal Insufficiency ◽  
Optic Chiasm ◽  
Nasal Administration ◽  
Rathke’S Cleft Cyst ◽  
Rathke's Cleft Cyst ◽  
Pituitary Mass ◽  
Silent Thyroiditis ◽  
Central Adrenal Insufficiency ◽  
Rathke's Cleft

A 73-year-old woman admitted to our hospital because of headache, poor appetite, malaise, weight loss, and vomiting was found to have central adrenal insufficiency and thyrotoxicosis due to silent thyroiditis. Polyuria developed after replacement with glucocorticoid (masked diabetes insipidus), which was controlled with nasal administration of desmopressin. Magnetic resonance imaging of the brain showed a large cystic pituitary mass (18 × 18 × 12 mm) extending suprasellarly to the optic chiasm. Transsphenoidal surgery revealed that the pituitary tumor was Rathke’s cleft cyst. Following surgery, replacement with neither glucocorticoid nor desmopressin was needed any more. Therefore, it is suggested that Rathke’s cleft cyst is responsible for the masked diabetes insipidus and the central insufficiency. Furthermore, it is speculated that thyrotoxicosis with painless thyroiditis might induce changes from subclinical adrenal insufficiency to transiently overt insufficiency.

scholarly journals MON-240 Histologically Proven Lymphocytic Hypophysitis with Marked Improvement on Glucocorticoid Therapy

2020 ◽  
Vol 4 (Supplement_1) ◽  
Author(s):  
Priyanka Mathias ◽  
Vafa Tabatabaie
Keyword(s):  
Soft Tissue ◽  
Hormone Replacement ◽  
Fibrous Tissue ◽  
Lymphocytic Hypophysitis ◽  
Glucocorticoid Therapy ◽  
Laboratory Evaluation ◽  
High Dose ◽  
Decompression Surgery ◽  
Pituitary Mass ◽  
Suprasellar Region

Abstract Background: Lymphocytic hypophysitis (LH) is a rare autoimmune disorder characterized by lymphocytic infiltration of the pituitary gland. The disease predominantly affects women, with >50% of cases presenting during pregnancy or postpartum.1 LH is often associated with other autoimmune conditions, primarily thyroiditis, and adrenalitis.2 Clinical case: A 27-year-old female presented with secondary amenorrhea for eight months. Workup revealed hyperprolactinemia (PRL 65 ng/mL) and a heterogenous pituitary mass measuring 3.3 cm in the largest dimension. Cabergoline was initiated for a presumed prolactinoma. Laboratory evaluation was significant for hypogonadotropic hypogonadism (estradiol <50 pg/mL, progesterone <1 ng/mL, FSH 2.9 mIU/mL, LH 0.45 mIU/mL) despite normalization in prolactin. She was also found to have Hashimoto’s thyroiditis (FT4 0.7 ng/dL, TSH 8.2 uU/mL with positive TPO antibodies) and was started on levothyroxine. Repeat imaging demonstrated a 2.4 cm heterogenous expanding sellar mass with soft tissue extension to the dorsum sella concerning for a meningioma. Visual field testing was intact without evidence of chiasmal compression. She underwent trans-sphenoidal pituitary decompression surgery which was terminated prematurely due to the presence of extensive fibrous tissue in the sella. Pathology was consistent with LH. Immunohistochemical staining was positive for lymphocytic markers CD3 and CD20, confirming marked infiltration of inflammatory B-cells and T-cells. Her postoperative course was notable for panhypopituitarism. In view of the pathological findings of LH, she was started on a high dose of 40mg of prednisone daily. Within two months, sellar magnetic resonance imaging revealed a homogenous normal-appearing pituitary with a reduction in soft tissue mass in the sellar and suprasellar region. Oral contraceptive therapy was initiated for sex hormone replacement with the resumption of menses. Prednisone was gradually tapered to 5mg/day, and she was subsequently transitioned to maintenance hydrocortisone for central adrenal insufficiency. Discussion: LH is a rare chronic inflammatory disease that should be considered in the differential diagnosis of a non-secreting pituitary mass, especially if occurring in young women presenting during pregnancy or postpartum. The condition is associated with preferential destruction of corticotroph and thyrotroph cells.3 Appropriate management remains controversial. High dose glucocorticoid therapy, to which our patient responded to dramatically, has been shown to be beneficial in reducing mass effect. Optimal treatment involves surgical resection of the pituitary mass to decompress surrounding structures.3 References: 1. JCEM, Volume 100, Issue 10, October 2015, Pages 3841-3849 2. JCEM, Volume 80, Issue 8, August 1995, Pages 2302-2311 3. Horm Res, 2007;68 Supplement 5:145-50

scholarly journals Complete Androgen Insensitivity Syndrome: From Bench to Bed

2021 ◽  
Vol 22 (3) ◽  
pp. 1264
Author(s):  
Nina Tyutyusheva ◽  
Ilaria Mancini ◽  
Giampiero Igli Baroncelli ◽  
Sofia D’Elios ◽  
Diego Peroni ◽  
...  
Keyword(s):  
Receptor Gene ◽  
Hormone Replacement ◽  
Basic Research ◽  
Well Being ◽  
Androgen Receptor Gene ◽  
Androgen Insensitivity Syndrome ◽  
Primary Amenorrhea ◽  
Complete Androgen Insensitivity Syndrome ◽  
Androgen Insensitivity

Complete androgen insensitivity syndrome (CAIS) is due to complete resistance to the action of androgens, determining a female phenotype in persons with a 46,XY karyotype and functioning testes. CAIS is caused by inactivating mutations in the androgen receptor gene (AR). It is organized in eight exons located on the X chromosome. Hundreds of genetic variants in the AR gene have been reported in CAIS. They are distributed throughout the gene with a preponderance located in the ligand-binding domain. CAIS mainly presents as primary amenorrhea in an adolescent female or as a bilateral inguinal/labial hernia containing testes in prepubertal children. Some issues regarding the management of females with CAIS remain poorly standardized (such as the follow-up of intact testes, the timing of gonadal removal and optimal hormone replacement therapy). Basic research will lead to the consideration of new issues to improve long-term well-being (such as bone health, immune and metabolic aspects and cardiovascular risk). An expert multidisciplinary approach is mandatory to increase the long-term quality of life of women with CAIS.

scholarly journals When polyuria does not stop: a case report on an unusual complication of hantavirus infection

2020 ◽  
Vol 20 (1) ◽  
Author(s):  
Sebastian Schwab ◽  
Simon Lissmann ◽  
Niklas Schäfer ◽  
Alexander Isaak ◽  
Dietrich Klingmüller ◽  
...  
Keyword(s):  
Case Report ◽  
Pituitary Gland ◽  
Diabetes Insipidus ◽  
Hormone Replacement ◽  
Kidney Injury ◽  
Western World ◽  
Hantavirus Infection ◽  
Unusual Complication ◽  
Symptomatic Therapy ◽  
Urine Production

Abstract Background The clinical features, course and outcome of hantavirus infection is highly variable. Symptoms of the central nervous system may occur, but often present atypically and diagnostically challenging. Even though the incidence of hantavirus infection is increasing worldwide, this case is the first to describe diabetes insipidus centralis as a complication of hantavirus infection in the Western world. Case presentation A 49-year old male presenting with severe headache, nausea and photophobia to our neurology department was diagnosed with acute haemorrhage in the pituitary gland by magnetic resonance imaging. In the following days, the patient developed severe oliguric acute kidney failure. Diagnostic workup revealed a hantavirus infection, so that the pituitary haemorrhage resulting in hypopituitarism was seen as a consequence of hantavirus-induced hypophysitis. Under hormone replacement and symptomatic therapy, the patient’s condition and kidney function improved considerably, but significant polyuria persisted, which was initially attributed to recovery from kidney injury. However, water deprivation test revealed central diabetes insipidus, indicating involvement of the posterior pituitary gland. The amount of urine production normalized with desmopressin substitution. Conclusion Our case report highlights that neurological complications of hantavirus infection should be considered in patients with atypical clinical presentation.

Diagnosis and management of pituitary abscess: a review of twenty-four cases

2001 ◽  
Vol 95 (2) ◽  
pp. 233-241 ◽  
Author(s):  
G. Edward Vates ◽  
Mitchel S. Berger ◽  
Charles B. Wilson
Keyword(s):  
San Francisco ◽  
Hormone Replacement ◽  
Sella Turcica ◽  
Signs And Symptoms ◽  
Cystic Mass ◽  
Pituitary Abscess ◽  
Pituitary Mass ◽  
Content Type ◽  
Visual Changes ◽  
Fine Print

Object. Pituitary abscess is a rare but serious intrasellar infection. To better determine the salient signs and symptoms that help in making the diagnosis, and to determine the most appropriate treatment, the authors reviewed their experience in a series of 24 patients treated at the University of California at San Francisco. Methods. Nine of the patients were female and 15 were male, and their mean age was 41.2 years (range 12–71 years). Surprisingly, most patients in our series presented with complaints and physical findings consistent with a pituitary mass, but rarely with evidence of a serious infection. Headache, endocrine abnormalities, and visual changes were the most common clinical indicators; fever, peripheral leukocytosis, and meningismus were present in 33% or fewer of the patients. Imaging tests demonstrated a pituitary mass in all patients, but the features evident on computerized tomography and magnetic resonance studies did not distinguish pituitary abscesses from other, more common intrasellar lesions. Because of the ambiguous clinical features and imaging findings, most abscesses were not diagnosed before treatment; rather, the diagnosis was made during surgical exploration of the sella turcica, when the surgeon encountered a cystic mass containing pus. There were only two deaths in this series (8.3%). Patients presenting with headache and visual changes noted improvement in almost all cases; patients with endocrine dysfunction generally did not recover normal pituitary function, but were easily treated with hormone replacement therapy. Conclusions. Antibiotic therapy is suggested for patients who have symptoms of sepsis, or for patients in whom specific organisms are identified from cultures obtained during surgery. The transsphenoidal approach is recommended over open craniotomy for surgical drainage.

scholarly journals Persistence of hyperprolactinemia after treatment of primary hypothyroidism and withdrawal of long term use of estrogen: are the tuberoinfundibular dopaminergic neurons permanently lesioned?

2005 ◽  
Vol 49 (3) ◽  
pp. 468-472 ◽  
Author(s):  
Luiz Augusto Casulari ◽  
Fábio Celotti ◽  
Luciana A. Naves ◽  
Lucília Domingues ◽  
Carla Papadia
Keyword(s):  
Dopaminergic Neurons ◽  
Hormone Replacement ◽  
Hormonal Contraceptive ◽  
Primary Hypothyroidism ◽  
Trh Test ◽  
Pituitary Mass ◽  
Thyroid Hormone Replacement ◽  
Before And After ◽  
High Doses

Long term use of high doses of estrogen and the presence of chronic hyperprolactinemia may, at least in the rat, provoke lesions in the tuberoinfundibular dopaminergic (TIDA) neurons responsible for the control of prolactin (Prl) secretion. This occurrence, which is not yet well documented in humans, may have taken place in a patient on chronic oral hormonal contraceptive (OC) treatment who was seen for primary hypothyroidism, hyperprolactinemia and a pituitary mass. After thyroid hormone replacement, OC withdrawn and bromocriptine treatment, this patient could not maintain normal Prl levels, unless continuously treated with a dopaminergic agonist even when MRI was indicative of a normal situation. Function of TIDA neurons was investigated by TRH test (200µg IV) performed before and after treatment with 25mg carbidopa plus 250mg L-dopa every 4 hours for one day. Basal TSH was normal (3.9µU/mL) whereas basal Prl was high (67.5 ng/mL); both TSH and Prl levels appropriately increased after TRH: peaks 31.8µU/mL and 157.8 ng/mL, respectively. After treatment with carbidopa/L-dopa, basal TSH (1.6µU/mL) and Prl (34ng/mL) decreased and the response to TRH was partially blocked (10.3µU/mL and 61ng/mL, respectively). In spite of a normal response, we discuss the possibility that the persistence of hyperprolactinemia is due to lesion of the TIDA neurons produced by the long term use of high doses of estrogens and by the presence of chronic hyperprolactinemia.

A Suprasellar Atypical Teratoma Presenting as an Intrasellar Mass: A Case Report

Neurosurgery ◽  
1983 ◽  
Vol 13 (1) ◽  
pp. 40-43 ◽  
Author(s):  
Dan Fults ◽  
David L. Kelly
Keyword(s):  
Case Report ◽  
Brain Tumors ◽  
Diabetes Insipidus ◽  
Secondary Amenorrhea ◽  
Classic Triad ◽  
Suprasellar Region ◽  
Visual Disturbances

Abstract Intracranial atypical teratomas are midline brain tumors with both germinomatous and teratomatous elements. When they occur in the suprasellar region, they usually present with a classic triad of visual disturbances, diabetes insipidus, and hypopituitarism. We report the case of a suprasellar atypical teratoma that presented as an intrasellar lesion and caused secondary amenorrhea in a 15-year-old girl.

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