scholarly journals SAT-237 Isolated Hypogonadotropic Hypogonadism in a Male with Sarcoidosis

2020 ◽  
Vol 4 (Supplement_1) ◽  
Author(s):  
Tânia Matos ◽  
Cristiana Costa ◽  
Sónia do Vale ◽  
Maria Joao Bugalho
Keyword(s):  
Nervous System ◽  
Systemic Disease ◽  
Hypogonadotropic Hypogonadism ◽  
Brain Mri ◽  
Cranial Nerves ◽  
Visual Fields ◽  
Laboratory Evaluation ◽  
Endocrine Disorders ◽  
Pituitary Insufficiency ◽  
Hypothalamic Pituitary Axis

Abstract Sarcoidosis is a systemic disease of unknown cause that is characterised by the formation of immune granulomas in various organs, mainly the lungs and the lymphatic system. The clinical involvement of the nervous system occurs in 5 to 15% of the cases. Any part of the nervous system can be affected, with the cranial nerves, the hypothalamus and the pituitary gland being the ones most commonly involved. However, hypothalamic-pituitary (HP) manifestations are rare manifestations of sarcoidosis, occurring in <1% of all intrasellar lesions. A 33-year old man was admitted to the emergency room with confusion and cognitive impairment progressively evolving over the past 2 months. The main complains were bilateral headaches, fatigue, adynamia and libido reduction. No visual fields defects were detected. Three months earlier, he had been diagnosed with sarcoidosis with pulmonary and ganglionar involvement, which was confirmed after histopathology analysis of tissue biopsy of the lung and mediastinic lymph nodes. However, the patient remained without any medication. He was admitted to the in-patient department and a brain MRI was performed, which revealed intense infra and supratentorial leptomeningeal enhancement, with involvement of the hypothalamus and optic chiasm. Laboratory evaluation revealed significantly reduced gonadotrophin and testosterone levels (FSH 1.1U/L, LH 0.43U/L, total testosterone 4.5ng/dL), normal prolactin and no other HP hormonal deficits. Clinical diagnosis was consistent with neurosarcoidosis with hypothalamic infiltration resulting in clinical hypogonadotropic hypogonadism. The patient initiated systemic therapy with corticosteroid, showing an overall improvement. After the hospital discharge, he started hormonal reposition with testosterone therapy with additional clinical improvement. Pituitary insufficiency is the presenting form of neurosarcoidosis in only 3 to 9% of the cases. Aside from diabetes insipidus and hyperprolactinemia, hypogonadism represents one of the endocrine disorders more frequently associated with HP involvement. Furthermore, hypothalamic sarcoidosis involvement is usually associated with multiple hypothalamic-pituitary deficits, rather than isolated ones. The case reported herein, illustrates a presumptive case of neurosarcoidosis, conducting to an isolated hypothalamic-pituitary axis deficiency. Although rare, HP involvement in neurosarcoidosis is usually associated with permanent endocrine defects. Hence, hypothalamic-pituitary axis evaluation should be performed promptly and long-term management is required.

Turner syndrome and pituitary adenomas: a case report and review of literature

2017 ◽  
Vol 30 (2) ◽  
Author(s):  
Tiffany Yeh ◽  
Angela Ganan Soto ◽  
Jose Bernardo Quintos ◽  
Lisa Swartz Topor
Keyword(s):  
Turner Syndrome ◽  
Pituitary Adenomas ◽  
Case Reports ◽  
Hypogonadotropic Hypogonadism ◽  
Brain Mri ◽  
Laboratory Evaluation ◽  
Primary Amenorrhea ◽  
Pituitary Hormone ◽  
Pituitary Macroadenoma ◽  
Hypergonadotropic Hypogonadism

AbstractBackground:Turner syndrome (TS) is the most common sex chromosome abnormality in females, typically associated with primary amenorrhea and premature ovarian failure due to gonadal dysgenesis. The association of TS with hypopituitarism is an uncommon finding. The objective of the study was to describe an adolescent with TS with hypergonadotropic hypogonadism and subsequent hypogonadotropic hypogonadism.Case presentation:A 16-year-old female with primary amenorrhea was diagnosed with TS based on karyotype 45,XO. Other laboratory values included FSH 45.52 IU/L, LH 17.4 IU/L, undetectable estradiol, and prolactin 1.08 nmol/L. Two months later and before treatment, she presented with severe headache and a new left cranial nerve VI palsy. Brain MRI showed a 2.7-cm hemorrhagic pituitary macroadenoma expanding the sella. Laboratory evaluation showed FSH 5.9 IU/L, LH 0.9 IU/L, prolactin 0.09 nmol/L, and GH 1.03 ng/mL. She underwent transphenoidal hypophysectomy, and pathology revealed pituitary adenoma with immunohistochemical staining positive for growth hormone and prolactin. She subsequently developed multiple pituitary hormone deficiencies. Review of the literature identified eight case reports of women with TS who developed pituitary adenomas.Conclusions:This case illustrates an uncommon co-occurrence of TS and pituitary macroadenoma. Sequential gonadotropin measurements demonstrate the evolution of hypergonadotropic hypogonadism into hypogonadotropic hypogonadism due to hemorrhagic pituitary macroadenoma.

scholarly journals Association of Slipped Capital Femoral Epiphysis With Panhypopituitarism Due to Pituitary Macroadenoma: A Case Report

2021 ◽  
Vol 9 ◽  
pp. 232470962199995
Author(s):  
James B. Harris ◽  
Bhuvana Sunil ◽  
Michael K. Ryan ◽  
Giovanna Beauchamp
Keyword(s):  
Skeletal Maturity ◽  
Hypogonadotropic Hypogonadism ◽  
Slipped Capital Femoral Epiphysis ◽  
Hormone Deficiency ◽  
Laboratory Evaluation ◽  
Adrenal Crisis ◽  
Endocrine Disorders ◽  
Pituitary Macroadenoma ◽  
Percutaneous Pinning ◽  
Surgical Interventions

Slipped capital femoral epiphysis (SCFE) commonly occurs in overweight or obese adolescents, but can also be associated with endocrine disorders including hypothyroidism, pituitary tumors, and growth hormone deficiency. In this article, we present a case of panhypopituitarism that initially presented with SCFE. A 16-year-old male presented with right SCFE. After a right hip open reduction and percutaneous pinning procedure, findings of skeletal maturity that lagged behind his chronologic age and a delayed Tanner stage resulted in a referral to an endocrine specialist. Endocrine laboratory evaluation identified elevated prolactin levels (1493 ng/mL), hypogonadotropic hypogonadism, and central adrenal insufficiency as evidenced by low morning cortisol level of 1.0 µg/dL. Magnetic resonance imaging revealed a large pituitary T2 isointense mass measuring 1.8 × 2.7 × 2.3 cm. The patient was diagnosed with panhypopituitarism due to a pituitary macroadenoma. Multidisciplinary collaboration for treatment of this patient consisted of oral cabergoline, oral levothyroxine, oral hydrocortisone therapy, intramuscular testosterone therapy, and a prophylactic closed reduction percutaneous pinning of the left hip due to high risk of also developing SCFE of the left hip. Panhypopituitarism should be considered as a diagnosis after atypical presentations of SCFE. In our case, an astute clinical assessment resulted in prompt endocrine referral and management of panhypopituitarism. Our report highlights the importance of multidisciplinary collaborations to guarantee early detection of endocrinopathies in patients with SCFE undergoing surgical interventions in order to avoid potential complications, such as adrenal crisis during surgery.

scholarly journals Diagnosis and Treatment of Pituitary Adenomas

2020 ◽  
Vol 9 (4) ◽  
pp. 311-316
Author(s):  
O. A. Beylerli ◽  
Zhao Shiguang ◽  
I. F. Gareev ◽  
Chen Xin
Keyword(s):  
Pituitary Gland ◽  
Pituitary Adenomas ◽  
Hormone Replacement ◽  
Cranial Nerves ◽  
Interdisciplinary Approach ◽  
Brain Structures ◽  
Endocrine Disorders ◽  
Pituitary Insufficiency ◽  
Long Term Follow Up

Pituitary adenomas are among the most common primary intracranial tumours. They are predominantly benign and account for 10–15 % of all intracranial neoplasms. These tumours are divided into two subgroups: macroadenomas (> 1 cm) and microadenomas (<1 cm). About 30% of pituitary adenomas do not produce hormones. In other cases tumours can produce any of the hormones of the anterior pituitary gland and thus cause endocrine disorders. Compression of the pituitary gland, adjacent cranial nerves and brain structures can lead to gland failure, cranial nerve deficit and other neurological disorders. Visual impairment, usually with bitemporal hemianopia, is one of the most common primary symptoms. Diagnosis of the disease requires an interdisciplinary approach. Transnasal transsphenoidal resection is indicated for all patients with symptomatic pituitary adenomas except prolactinomas. Prolactinomas respond very well to treatment with dopamine agonists. In cases of pituitary insufficiency a timely start of adequate hormone replacement therapy is important. Long-term follow-up is an integral part of the treatment concept. In this review we examine the current diagnostic criteria and treatment methods for various forms of pituitary adenomas.

Assessment of endocrine disorders of the hypothalamicpituitary axis by nuclear medicine techniques

2002 ◽  
Vol 41 (02) ◽  
pp. 80-90 ◽  
Author(s):  
F. Jockenhövel ◽  
P. Theissen ◽  
M. Dietlein ◽  
W. Krone ◽  
H. Schicha ◽  
...  
Keyword(s):  
Nuclear Medicine ◽  
Pituitary Adenomas ◽  
Dopamine D2 Receptor ◽  
Somatostatin Receptor ◽  
D2 Receptor ◽  
Ectopic Acth Syndrome ◽  
Endocrine Disorders ◽  
Ectopic Acth ◽  
Number Of Patients ◽  
Hypothalamic Pituitary Axis

SummaryThe following article reviews nuclear medicine techniques which can be used for assessment of endocrine disorders of the hypothalamic-pituitary axis. For planar and SPECT imaging somatostatin-receptor- and dopamine- D2-receptor-scintigraphy are the most widely distributed techniques. These nuclear medicine techniques may be indicated in selected cases to answer differential diagnostic problems. They can be helpful to search for presence and localization of receptor positive tissue. Furthermore they can detect metastasis in the rare cases of a pituitary carcinoma. Scintigraphy with Gallium-67 is suitable for further diagnostic evaluation in suspected hypophysitis. Other SPECT radiopharmaca do not have relevant clinical significance. F-18-FDG as PET radiopharmacon is not ideal because obvious pituitary adenomas could not be visualized. Other PET radiopharmaca including C-11-methionine, C-11-tyrosine, F-18-fluoroethylspiperone, C-11-methylspiperone, and C-11-raclopride are available in specialized centers only. Overall indications for nuclear medicine in studies for the assessment of endocrine disorders of the hypothalamic-pituitary-axis are rare. Original studies often report only about a small number of patients. According to the authors’ opinion the relevance of nuclear medicine in studies of clinically important endocrinologic fields, e. g. localization of small ACTH-producing pituitary adenomas, tumor localization in ectopic ACTH syndrome, localization of recurrent pituitary tissue, assessment of small incidentalomas, can not be definitely given yet.

scholarly journals Gasperini Syndrome: A Case Report and Systematic Review and Proposing a New Definition

2020 ◽  
Vol 12 (3) ◽  
pp. 433-439
Author(s):  
Riwaj Bhagat ◽  
Siddharth Narayanan ◽  
Marwa Elnazeir ◽  
Thong Diep Pham ◽  
Robert Paul Friedland ◽  
...  
Keyword(s):  
Systematic Review ◽  
Brain Mri ◽  
Cranial Nerves ◽  
Clinical Manifestations ◽  
The Other ◽  
Neurological Deficits ◽  
Brainstem Stroke ◽  
Neurological Features ◽  
The Right ◽  
Core Features

Gasperini syndrome (GS), a rare brainstem syndrome, is featured by ipsilateral cranial nerves (CN) V–VIII dysfunction with contralateral hemibody hypoesthesia. While there have been 18 reported cases, the GS definition remains ambiguous. We report a new case and reviewed the clinical features of this syndrome from all published reports to propose a new definition. A 57-year-old man with acute brainstem stroke had right CN V–VIII and XII palsies, left body hypoesthesia and ataxia. Brain MRI showed an acute stroke in the right caudal pons and bilateral cerebellum. After a systematic review, we classified the clinical manifestations into core and associate features based on the frequencies of occurring neurological deficits. We propose that a definitive GS requires the presence of ipsilateral CN VI and VII palsies, plus one or more of the other three core features (ipsilateral CN V, VIII palsies and contralateral hemibody hemihypalgesia). Additionally, GS, similar to Wallenberg’s syndrome, represents a spectrum that can have other associated neurological features. The revised definition presented in this study may enlighten physicians with the immediate recognition of the syndrome and help improve clinical localization of the lesions and its management.

scholarly journals Endocrine Dysfunction in Prader-Willi Syndrome: A Review with Special Reference to GH

2001 ◽  
Vol 22 (6) ◽  
pp. 787-799 ◽  
Author(s):  
Pia Burman ◽  
E. Martin Ritzén ◽  
Ann Christin Lindgren
Keyword(s):  
Replacement Therapy ◽  
Lean Body Mass ◽  
Body Mass ◽  
Genetic Disorder ◽  
Hormone Replacement ◽  
Hypogonadotropic Hypogonadism ◽  
Endocrine Disorders ◽  
Prader Willi Syndrome ◽  
Gh Treatment ◽  
Pituitary Dysfunction

Abstract Prader-Willi syndrome is a genetic disorder occurring in 1 in 10,000–16,000 live-born infants. In the general population, approximately 60 people in every 1,000,000 are affected. The condition is characterized by short stature, low lean body mass, muscular hypotonia, mental retardation, behavioral abnormalities, dysmorphic features, and excessive appetite with progressive obesity. Furthermore, morbidity and mortality are high, probably as a result of gross obesity. Most patients have reduced GH secretory capacity and hypogonadotropic hypogonadism, suggesting hypothalamic-pituitary dysfunction. Replacement of GH and/or sex hormones may therefore be beneficial in Prader-Willi syndrome, and several clinical trials have now evaluated GH replacement therapy in affected children. Results of GH treatment have been encouraging: improved growth, increased lean body mass, and reduced fat mass. There was also some evidence of improvements in respiratory function and physical activity. The long-term benefits of GH treatment are, however, still to be established. Similarly, the role of sex hormone replacement therapy needs to be clarified as few data exist on its efficacy and potential benefits. In summary, Prader-Willi syndrome is a disabling condition associated with GH deficiency and hypogonadism. More active treatment of these endocrine disorders is likely to benefit affected individuals.

scholarly journals Relapsing Remitting Multiple Sclerosis in X-Linked Charcot-Marie-Tooth Disease with Central Nervous System Involvement

2015 ◽  
Vol 2015 ◽  
pp. 1-3 ◽  
Author(s):  
Georgios Koutsis ◽  
Georgia Karadima ◽  
Paraskewi Floroskoufi ◽  
Maria Raftopoulou ◽  
Marios Panas
Keyword(s):  
Multiple Sclerosis ◽  
Central Nervous System ◽  
Nervous System ◽  
Brain Mri ◽  
Charcot Marie Tooth ◽  
Charcot Marie Tooth Disease ◽  
Relapsing Remitting ◽  
Remitting Multiple Sclerosis ◽  
Relapsing Remitting Multiple Sclerosis ◽  
Tooth Disease

We report a patient with relapsing remitting multiple sclerosis (MS) and X-linked Charcot-Marie-Tooth disease (CMTX), carrying a GJB1 mutation affecting connexin-32 (c.191G>A, p. Cys64Tyr) which was recently reported by our group. This is the third case report of a patient with CMTX developing MS, but it is unique in the fact that other family members carrying the same mutation were found to have asymptomatic central nervous system (CNS) involvement (diffuse white matter hyperintensity on brain MRI and extensor plantars). Although this may be a chance association, the increasing number of cases with CMTX and MS, especially with mutations involving the CNS, may imply some causative effect and provide insights into MS pathogenesis.

Extracranial, Extraspinal Meningiomas of the Head and Neck

1993 ◽  
Vol 102 (12) ◽  
pp. 967-970 ◽  
Author(s):  
Matthew Kershisnik ◽  
David L. Callender ◽  
John G. Batsakis
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Aggressive Behavior ◽  
Head And Neck ◽  
Cranial Nerves ◽  
Surgical Excision ◽  
Anatomic Site ◽  
Arachnoid Granulations ◽  
Cell Clusters ◽  
Arachnoid Cell

The head and neck is the most frequent location for extraneuraxial meningiomas, be they wholly extracranial or extraspinal or extensions of central nervous system meningiomas. Regardless of anatomic site of origin, nearly all meningiomas arise from meningocytes of arachnoid granulations. Ectopic arachnoid cell clusters have a predilection for areas of dural penetration of cranial nerves, and it is in these areas that most extracranial meningiomas are found. Surgical excision is the mainstay of treatment and must be planned by radiologic studies to determine the extent of the tumor and the presence or absence of a companion central nervous system meningioma. The often locally invasive and aggressive behavior of the meningiomas belies their benign histologic appearance.

scholarly journals Neurobrucellosis mimicking primary vasculitis of the central nervous system: we should perform a metagenomic analysis of the cerebrospinal fluid prior to brain biopsy

2021 ◽  
Author(s):  
Marina Barrionuevo Mathias ◽  
Fernando Gatti ◽  
Gustavo Bruniera ◽  
Vitor Paes ◽  
Gisele Sampaio Silva ◽  
...  
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Psychiatric Symptoms ◽  
Brain Mri ◽  
Genetic Material ◽  
Clinical Manifestations ◽  
Brain Biopsy ◽  
Metagenomic Analysis ◽  
Normal Brain ◽  
The Central Nervous System

Context Primary angiitis of the central nervous system (PACNS) is characterized by the inflammation of small and medium CNS arteries; the clinical manifestations include headache, cognitive impairment and focal neurological deficits. The gold standard test for diagnosis is brain biopsy. Neurobrucellosis is an infection associated with cattle farming, which leads to neurological and psychiatric symptoms. We report a case of neurobrucellosis mimicking PACNS. Case report Male, 32 years old, with fever, headache, dizziness and cognitive impairments for 30 days. History of stroke 2 years before, with mild sequelae right hemiparesis; investigation showed suspected intracranial dissection. On physical examination, he had apathy, preserved strength, reduced reflexes with plantar flexor responses. General laboratory tests, autoantibodies and serology were normal. Brain MRI showed deep left nucleocapsular gliosis and cerebral angiography revealed stenosis of the ICA and MCA. CSF showed 42 cells/ mm³, glucose 46 mg/dL, protein 82 mg/dL. Blood PCR was negative for Brucella. Immunophenotyping of the CSF and PET-CT excluded neoplasia. Brain biopsy was inconclusive for vasculitis. Metagenomic analysis of the CSF detected 78% of Brucella genetic material. Serum agglutination test was 1:40 for brucella. Conclusions PACNS is diagnosed by exclusion. The patient filled criteria for possible PACNS, image compatible with vascular stenosis, but inconclusive brain biopsy. Brucellosis is an endemic disease in underdeveloped countries that can present as CNS vasculitis. Metagenomic analysis allows the detection of different pathogens using a single method. The case illustrates the use of metagenomics in rare diseases characterized by vasculitis, with change in clinical outcomes and conduct.

scholarly journals The incidence and pathophysiology of neurological symptoms in COVID-19

2021 ◽  
Vol 40 (4) ◽  
pp. 33-42
Author(s):  
Igor V. Litvinenko ◽  
Miroslav M. Odinak ◽  
Nikolay V. Tsygan ◽  
Aleksander V. Ryabtsev
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Rare Complication ◽  
Cranial Nerves ◽  
Neurological Symptoms ◽  
Immune Mediated ◽  
High Incidence ◽  
The Central Nervous System ◽  
Coronavirus Infection

The central nervous system seems to be quite vulnerable to SARS-CoV-2, leading to a variety of alteration pathways, high incidence and variability of the neurological symptoms of COVID-19. The COVID-19 symptoms, possibly associated with alteration to the central nervous system, include hyperthermia, shortness of breath, fatigue, headache, dizziness, dysphonia, dysphagia, hyposmia and anosmia, hypogeusia and ageusia, impairment of consciousness. The impairment of olfaction and gustation are the most common symptoms of the nervous system alteration (98% and 70%, respectively), which is most likely a consequence of the alteration of the receptors. Presumably the pathogenesis of dysphonia and dysphagia may involve neurodegenerative mechanisms or may be associated with a predominantly demyelinating alteration of the caudal cranial nerves. Pathomorphological findings in the brain of the COVID-19 patients include diffuse hypoxic and focal ischemic injuries of various sizes up to ischemic infarctions (in thrombosis of large arteries); microangiopathy; vasculitis; diapedetic and confluent hemorrhages with possible progression to hemorrhagic infarctions and rarely intracerebral hematomas. Acute cerebrovascular accident worsens the course of COVID-19 and can worsen the clinical outcome, taking into account the mechanisms of the central nervous system alteration in highly contagious coronavirus infections (SARS-CoV, MERS, SARS-CoV-2), including embolism, hypoxia, neurodegeneration, systemic inflammatory response and immune-mediated alteartion to the nervous tissue. A fairly rare complication of coronavirus infection, however, acute myelitis requires attention due to the severity of neurological disorders. The literature data show high incidence and polymorphism of the symptoms of the central nervous system alteration, as well as the important role of the cerebrovascular and neurodegenerative pathogenesis of brain alteration in COVID-19, which is taken into account in examining and treating the patients with new coronavirus infection. (1 figure, bibliography: 61 refs)

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