Clinical Overview > Topic > Pituitary
You are looking at 71 - 80 of 160 items
Search for other papers by Daniela Regazzo in
Google Scholar
PubMed
Search for other papers by Marina Paola Gardiman in
Google Scholar
PubMed
Search for other papers by Marily Theodoropoulou in
Google Scholar
PubMed
Search for other papers by Carla Scaroni in
Google Scholar
PubMed
Search for other papers by Gianluca Occhi in
Google Scholar
PubMed
Search for other papers by Filippo Ceccato in
Google Scholar
PubMed
Summary
Tuberous sclerosis complex (TSC) is an autosomal dominant multisystem hereditary cutaneous condition, characterized by multiple hamartomas. In rare cases, pituitary neuroendocrine tumors (PitNETs) have been described in patients with TSC, but the causal relationship between these two diseases is still under debate. TSC is mostly caused by mutations of two tumor suppressor genes, encoding for hamartin (TSC1) and tuberin (TSC2), controlling cell growth and proliferation. Here, we present the case of a 62-year-old Caucasian woman with TSC and a silent gonadotroph PitNET with suprasellar extension, treated with transsphenoidal endoscopic neurosurgery with complete resection. Therapeutic approaches based on mTOR signaling (i.e. everolimus) have been successfully used in patients with TSC and tested in non-functioning PitNET cellular models with promising results. Here, we observed a reduction of cell viability after an in vitro treatment of PitNET’s derived primary cells with everolimus. TSC analysis retrieved no disease-associated variants with the exception of the heterozygous intronic variant c.4006-71C>T found in TSC2: the computational tools predicted a gain of a new splice site with consequent intron retention, not confirmed by an in vitro analysis of patient’s lymphocyte-derived RNA. Further analyses are therefore needed to provide insights on the possible mechanisms involving the hamartin-tuberin complex in the pathogenesis of pituitary adenomas. However, our data further support previous observations of an antiproliferative effect of everolimus on PitNET.
Learning points:
-
Pituitary neuroendocrine tumors (PitNET) in patients with tuberous sclerosis complex (TSC) are rare: only few cases have been reported in literature.
-
Therapeutic approach related to mTOR signaling, such as everolimus, may be used in some patients with PitNETs as well as those with TSC.
-
We reported a woman with both non-secreting PitNET and TSC; PitNET was surgically removed and classified as a silent gonadotroph tumor.
-
Everolimus treatment in PitNET’s-derived primary cells revealed a significant decrease in cell viability.
-
Considering our case and available evidence, it is still unclear whether a PitNET is a part of TSC or just a coincidental tumor.
Search for other papers by Shunsuke Funazaki in
Google Scholar
PubMed
Search for other papers by Hodaka Yamada in
Google Scholar
PubMed
Search for other papers by Kazuo Hara in
Google Scholar
PubMed
Division of Endocrinology and Metabolism Division of Endocrinology and Metabolism, International University of Health and Welfare Hospital, Tochigi, Japan
Search for other papers by San-e Ishikawa in
Google Scholar
PubMed
Summary
Lymphocytic hypophysitis (LyH) has been known to be associated with pregnancy. We herein report the case of a 33-year-old woman who underwent vaginal delivery without massive bleeding at 40 weeks of gestation. Because of the presence of headache and terrible fatigue after childbirth, she visited our hospital. Severe hyponatremia (Na, 118 mEq/L) and visual field abnormality was noted upon examination. MRI revealed pituitary enlargement with a swollen pituitary stalk, albeit at low signal intensity. Basal pituitary hormone levels were all reduced and remained low after exogenous administration of hypothalamic-releasing hormones. She was diagnosed with LyH and was started on prednisolone 60 mg/day. A month later, her pituitary function had gradually improved together with a decrease in pituitary enlargement and recovery of her visual field. The dose of prednisolone was gradually reduced and finally withdrawn 27 months later. After prednisolone withdrawal, her pituitary function remained normal despite the absence of any hormonal replacement. A year later, she became pregnant without medication and delivered a second baby without LyH recurrence. Thereafter, her pituitary function has been normal for more than 5 years. Two valuable observations can be highlighted from the case. First, the patient completely recovered from LyH through prompt prednisolone therapy during its initial phase and had almost normal pituitary function. Second, after recovery from LyH, she was able to undergo spontaneous pregnancy and deliver a baby. We believe that reporting incidences of spontaneous pregnancy after complete normalization of pituitary function in patients with LyH is of great significance.
Learning points:
-
Females are more affected by LyH than males given its strong association with pregnancy.
-
LyH possesses characteristic findings on pituitary MRI.
-
Glucocorticoid therapy for LyH has been recommended as an effective treatment.
-
A history of previous pregnancies does not increase the risk of developing AH in subsequent pregnancies.
-
Early induction of high-dose prednisolone was therapeutically effective in treating LyH.
Search for other papers by Alireza Arefzadeh in
Google Scholar
PubMed
Search for other papers by Pooyan Khalighinejad in
Google Scholar
PubMed
Search for other papers by Bahar Ataeinia in
Google Scholar
PubMed
Search for other papers by Pegah Parvar in
Google Scholar
PubMed
Summary
Deletion of chromosome 2q37 results in a rare congenital syndrome known as brachydactyly mental retardation (BDMR) syndrome; a syndrome which has phenotypes similar to Albright hereditary osteodystrophy (AHO) syndrome. In this report, we describe a patient with AHO due to microdeletion in long arm of chromosome 2 [del(2)(q37.3)] who had growth hormone (GH) deficiency, which is a unique feature among reported BDMR cases. This case was presented with shortening of the fourth and fifth metacarpals which along with AHO phenotype, brings pseudopseudohypoparathyroidism (PPHP) and pseudohypoparathyroidism type Ia (PHP-Ia) to mind; however, a genetic study revealed del(2)(q37.3). We recommend clinicians to take BDMR in consideration when they are faced with the features of AHO; although this syndrome is a rare disease, it should be ruled out while diagnosing PPHP or PHP-Ia. Moreover, we recommend evaluation of IGF 1 level and GH stimulation test in patients with BDMR whose height is below the 3rd percentile.
Learning points:
-
Clinicians must have brachydactyly mental retardation (BDMR) syndrome in consideration when they are faced with the features of Albright hereditary osteodystrophy.
-
Although BDMR syndrome is a rare disease, it should be ruled out while diagnosing PPHP or PHP-Ia.
-
Evaluation of IGF1 level in patients diagnosed with BDMR whose height is below the 3rd percentile is important.
National University of Ireland, Galway, Ireland
Search for other papers by Michelle Maher in
Google Scholar
PubMed
Search for other papers by Federico Roncaroli in
Google Scholar
PubMed
Search for other papers by Nigel Mendoza in
Google Scholar
PubMed
Search for other papers by Karim Meeran in
Google Scholar
PubMed
Search for other papers by Natalie Canham in
Google Scholar
PubMed
Search for other papers by Monika Kosicka-Slawinska in
Google Scholar
PubMed
Search for other papers by Birgitta Bernhard in
Google Scholar
PubMed
Search for other papers by David Collier in
Google Scholar
PubMed
Search for other papers by Juliana Drummond in
Google Scholar
PubMed
Search for other papers by Kassiani Skordilis in
Google Scholar
PubMed
Search for other papers by Nicola Tufton in
Google Scholar
PubMed
Search for other papers by Anastasia Gontsarova in
Google Scholar
PubMed
Search for other papers by Niamh Martin in
Google Scholar
PubMed
Search for other papers by Márta Korbonits in
Google Scholar
PubMed
Search for other papers by Florian Wernig in
Google Scholar
PubMed
Summary
Symptomatic pituitary adenomas occur with a prevalence of approximately 0.1% in the general population. It is estimated that 5% of pituitary adenomas occur in a familial setting, either in isolated or syndromic form. Recently, loss-of-function mutations in genes encoding succinate dehydrogenase subunits (SDHx) or MYC-associated factor X (MAX) have been found to predispose to pituitary adenomas in co-existence with paragangliomas or phaeochromocytomas. It is rare, however, for a familial SDHx mutation to manifest as an isolated pituitary adenoma. We present the case of a pituitary lactotroph adenoma in a patient with a heterozygous germline SDHB mutation, in the absence of concomitant neoplasms. Initially, the adenoma showed biochemical response but poor tumour shrinkage in response to cabergoline; therefore, transsphenoidal surgery was performed. Following initial clinical improvement, tumour recurrence was identified 15 months later. Interestingly, re-initiation of cabergoline proved successful and the lesion demonstrated both biochemical response and tumour shrinkage. Our patient’s SDHB mutation was identified when we realised that her father had a metastatic paraganglioma, prompting genetic testing. Re-inspection of the histopathological report of the prolactinoma confirmed cells with vacuolated cytoplasm. This histological feature is suggestive of an SDHx mutation and should prompt further screening for mutations by immunohistochemistry and/or genetic testing. Surprisingly, immunohistochemistry of this pituitary adenoma demonstrated normal SDHB expression, despite loss of SDHB expression in the patient’s father’s paraganglioma.
Learning points:
-
Pituitary adenomas may be the presenting and/or sole feature of SDHB mutation-related disease.
-
SDHx mutated pituitary adenomas may display clinically aggressive behaviour and demonstrate variable response to medical treatment.
-
Histological evidence of intracytoplasmic vacuoles in a pituitary adenoma might suggest an SDH-deficient tumour and should prompt further screening for SDHx mutations.
-
Immunohistochemistry may not always predict the presence of SDHx mutations.
Search for other papers by Natassia Rodrigo in
Google Scholar
PubMed
Search for other papers by Samantha Hocking in
Google Scholar
PubMed
Summary
This case illustrates the exceedingly rare phenomenon of transient diabetes insipidus, in association with pre-eclampsia, occurring in the post-partum period following an in vitro fertilisation pregnancy, in an otherwise well 48-year-old lady. Diabetes insipidus can manifest during pregnancy, induced by increased vasopressinase activity secreted by placental trophoblasts and usually manifests in the third trimester. This presentation elucidates not only the intricate balance between the physiology of pregnancy and hormonal homeostasis, but also the importance of post-partum care as the physiological changes of pregnancy still hold pathological potential in the weeks immediately following delivery.
Learning points:
-
Diabetes insipidus (DI) is a rare complication of pregnancy occurring in 1 in 30 000 pregnancies.
-
It is associated with excessive vasopressinase activity, secreted by placental trophoblasts, which increases the rate of degradation of anti-diuretic hormone.
-
It is responsive to synthetic desmopressin 1-deanimo-8-d-arginine vasopressin as this form is not degraded by placental vasopressinase.
-
Vasopressinase is proportional to placental weight, which is increased in pregnancies conceived with assisted reproductive techniques including in vitro fertilisation.
-
Vasopressinase-induced DI is associated with pre-eclampsia.
Search for other papers by Carlos Tavares Bello in
Google Scholar
PubMed
Search for other papers by Patricia Cipriano in
Google Scholar
PubMed
Search for other papers by Vanessa Henriques in
Google Scholar
PubMed
Search for other papers by João Sequeira Duarte in
Google Scholar
PubMed
Search for other papers by Conceição Canas Marques in
Google Scholar
PubMed
Summary
Granular cell tumours (GCT) are rare, slow-growing, benign neoplasms that are usually located in the head and neck. They are more frequent in the female gender and typically have an asymptomatic clinical course, being diagnosed only at autopsy. Symptomatic GCT of the neurohypophysis are exceedingly rare, being less than 70 cases described so far. The authors report on a case of a 28-year-old male that presented to the Endocrinology clinic with clinical and biochemical evidence of hypogonadism. He also reported minor headaches without any major visual symptoms. Further laboratory tests confirmed hypopituitarism (hypogonadotrophic hypogonadism, central hypothyroidism and hypocortisolism) and central nervous system imaging revealed a pituitary macroadenoma. The patient underwent transcranial pituitary adenoma resection and the pathology report described a GCT of the neurohypophysis with low mitotic index. The reported case is noteworthy for the rarity of the clinicopathological entity.
Learning points:
-
Symptomatic GCTs are rare CNS tumours whose cell of origin is not well defined that usually give rise to visual symptoms, headache and endocrine dysfunction.
-
Imaging is quite unspecific and diagnosis is difficult to establish preoperatively.
-
Surgical excision is challenging due to lesion’s high vascularity and propensity to adhere to adjacent structures.
-
The reported case is noteworthy for the rarity of the clinicopathological entity.
Search for other papers by Taieb Ach in
Google Scholar
PubMed
Search for other papers by Hela Marmouch in
Google Scholar
PubMed
Search for other papers by Dorra Elguiche in
Google Scholar
PubMed
Search for other papers by Asma Achour in
Google Scholar
PubMed
Search for other papers by Hajer Marzouk in
Google Scholar
PubMed
Search for other papers by Hanene Sayadi in
Google Scholar
PubMed
Search for other papers by Ines Khochtali in
Google Scholar
PubMed
Search for other papers by Mondher Golli in
Google Scholar
PubMed
Summary
Kallmann syndrome (KS) is a form of hypogonadotropic hypogonadism in combination with a defect in sense of smell, due to abnormal migration of gonadotropin-releasing hormone-producing neurons. We report a case of a 17-year-old Tunisian male who presented with eunuchoid body proportions, absence of facial, axillary and pubic hair, micropenis and surgically corrected cryptorchidism. Associated findings included anosmia. Karyotype was 46XY and hormonal measurement hypogonadotropic hypogonadism. MRI of the brain showed bilateral agenesis of the olfactory bulbs and 3.5 mm pituitary microadenoma. Hormonal assays showed no evidence of pituitary hypersecretion.
Learning points:
-
The main clinical characteristics of KS include hypogonadotropic hypogonadism and anosmia or hyposmia.
-
MRI, as a non-irradiating technique, should be the first radiological step for investigating the pituitary gland as well as abnormalities of the ethmoid, olfactory bulbs and tracts in KS.
-
KS may include anterior pituitary hypoplasia or an empty sella syndrome. The originality of our case is that a microadenoma also may be encountered in KS. Hormonal assessment indicated the microadenoma was non-functioning. This emphasizes the importance of visualizing the pituitary region in KS patients to assess for hypoplastic pituitary malformations or adenomas.
Centre for Endocrinology, Diabetes and Metabolism, Birmingham Health Partners, Birmingham, UK
Departments of Endocrinology and Radiology, Queen Elizabeth Hospital, University Hospitals Birmingham NHS Foundation Trust, Birmingham, UK
Search for other papers by Athanasios Fountas in
Google Scholar
PubMed
Centre for Endocrinology, Diabetes and Metabolism, Birmingham Health Partners, Birmingham, UK
Departments of Endocrinology and Radiology, Queen Elizabeth Hospital, University Hospitals Birmingham NHS Foundation Trust, Birmingham, UK
Search for other papers by Shu Teng Chai in
Google Scholar
PubMed
Departments of Endocrinology and Radiology, Queen Elizabeth Hospital, University Hospitals Birmingham NHS Foundation Trust, Birmingham, UK
Search for other papers by John Ayuk in
Google Scholar
PubMed
Centre for Endocrinology, Diabetes and Metabolism, Birmingham Health Partners, Birmingham, UK
Departments of Endocrinology and Radiology, Queen Elizabeth Hospital, University Hospitals Birmingham NHS Foundation Trust, Birmingham, UK
Search for other papers by Neil Gittoes in
Google Scholar
PubMed
Search for other papers by Swarupsinh Chavda in
Google Scholar
PubMed
Centre for Endocrinology, Diabetes and Metabolism, Birmingham Health Partners, Birmingham, UK
Departments of Endocrinology and Radiology, Queen Elizabeth Hospital, University Hospitals Birmingham NHS Foundation Trust, Birmingham, UK
Search for other papers by Niki Karavitaki in
Google Scholar
PubMed
Summary
Co-existence of craniopharyngioma and acromegaly has been very rarely reported. A 65-year-old man presented with visual deterioration, fatigue and frontal headaches. Magnetic resonance imaging revealed a suprasellar heterogeneous, mainly cystic, 1.9 × 2 × 1.9 cm mass compressing the optic chiasm and expanding to the third ventricle; the findings were consistent with a craniopharyngioma. Pituitary hormone profile showed hypogonadotropic hypogonadism, mildly elevated prolactin, increased insulin-like growth factor 1 (IGF-1) and normal thyroid function and cortisol reserve. The patient had transsphenoidal surgery and pathology of the specimen was diagnostic of adamantinomatous craniopharyngioma. Post-operatively, he had diabetes insipidus, hypogonadotropic hypogonadism and adrenocorticotropic hormone and thyroid-stimulating hormone deficiency. Despite the hypopituitarism, his IGF-1 levels remained elevated and subsequent oral glucose tolerance test did not show complete growth hormone (GH) suppression. Further review of the pre-operative imaging revealed a 12 × 4 mm pituitary adenoma close to the right carotid artery and no signs of pituitary hyperplasia. At that time, he was also diagnosed with squamous cell carcinoma of the left upper lung lobe finally managed with radical radiotherapy. Treatment with long-acting somatostatin analogue was initiated leading to biochemical control of the acromegaly. Latest imaging has shown no evidence of craniopharyngioma regrowth and stable adenoma. This is a unique case report of co-existence of craniopharyngioma, acromegaly and squamous lung cell carcinoma that highlights diagnostic and management challenges. Potential effects of the GH hypersecretion on the co-existent tumours of this patient are also briefly discussed.
Learning points:
-
Although an extremely rare clinical scenario, craniopharyngioma and acromegaly can co-exist; aetiopathogenic link between these two conditions is unlikely.
-
Meticulous review of unexpected biochemical findings is vital for correct diagnosis of dual pituitary pathology.
-
The potential adverse impact of GH excess due to acromegaly in a patient with craniopharyngioma (and other neoplasm) mandates adequate biochemical control of the GH hypersecretion.
Search for other papers by Alicia R Jones in
Google Scholar
PubMed
Search for other papers by Alan McNeil in
Google Scholar
PubMed
Department of Medicine, The University of Melbourne (Royal Melbourne Hospital), Parkville, Victoria, Australia
Search for other papers by Christopher Yates in
Google Scholar
PubMed
Department of Medicine, The University of Melbourne (St. Vincent’s Hospital), Fitzroy, Victoria, Australia
Search for other papers by Bala Krishnamurthy in
Google Scholar
PubMed
Department of Medicine, The University of Melbourne (Western Campus), St Albans, Victoria, Australia
Search for other papers by Peter S Hamblin in
Google Scholar
PubMed
Summary
A variety of neoplastic, inflammatory and congenital conditions can cause pituitary stalk thickening. Differentiating between these causes is important as targeted treatment may be offered. Diagnostic work-up consists of a thorough history, examination, biochemical analysis and imaging. We present the case of a 33-year-old male who presented with diabetes insipidus and had pituitary stalk thickening on magnetic resonance imaging. Further investigations revealed an elevated CSF βhCG, which raised the possibility of an intracranial germ cell tumor. However, when repeated on four different assays, the βhCG levels were discordant. On serial imaging, the pituitary stalk thickening reduced slightly, which would be unexpected for a germ cell tumor. This case raises the difficulties interpreting CSF βhCG, as not all immunoassays for βhCG have been validated for use in CSF. The Roche Diagnostics Elecsys and Siemens Centaur assays have been validated for CSF βhCG, and so we advocate using one of these methods. If unavailable or serum/CSF results are ambiguous, serial MRI is appropriate, with pituitary stalk biopsy considered if the stalk measures >6.5 mm or other imaging abnormalities are present.
Learning points:
-
Most adult patients with central diabetes insipidus have imaging abnormalities on a pituitary MRI. The most common abnormalities are loss of the posterior pituitary bright spot and pituitary stalk thickening, both of which are non-specific.
-
Causes of pituitary stalk thickening include neoplastic, inflammatory, infective and congenital lesions.
-
Investigation of pituitary stalk thickening should encompass the many possible causes and include biochemical analyses as well as imaging of the chest, abdomen and pelvis. Further investigations should be guided by the clinical context, but may include testicular ultrasound, CSF analysis and pituitary stalk biopsy.
-
Germ cell tumors involving the pituitary stalk may be suspected on clinical grounds, but in the absence of a tissue diagnosis (biopsy) confirmation may be difficult and relies on biochemical assessment of blood and possibly CSF as well as serial MRI imaging.
-
CSF βhCG levels should be analyzed on an instrument validated for use in CSF or on multiple instruments, and the pitfalls of testing this marker (false negative in some germ cell tumors, false positives in other conditions, lack of internationally agreed reference ranges for diagnosing germ cell tumors) should be considered when interpreting the results.
Search for other papers by Raluca Maria Furnica in
Google Scholar
PubMed
Search for other papers by Julie Lelotte in
Google Scholar
PubMed
Search for other papers by Thierry Duprez in
Google Scholar
PubMed
Search for other papers by Dominique Maiter in
Google Scholar
PubMed
Search for other papers by Orsalia Alexopoulou in
Google Scholar
PubMed
Summary
A 26-year-old woman presented with severe postpartum headaches. Magnetic resonance imaging (MRI) revealed a symmetric, heterogeneous enlargement of the pituitary gland. Three months later, she developed central diabetes insipidus. A diagnosis of postpartum hypophysitis was suspected and corticosteroids were prescribed. Six months later, the pituitary mass showed further enlargement and characteristics of a necrotic abscess with a peripheral shell and infiltration of the hypothalamus. Transsphenoidal surgery was performed, disclosing a pus-filled cavity which was drained. No bacterial growth was observed, except a single positive blood culture for Staphylococcus aureus, considered at that time as a potential contaminant. A short antibiotic course was, however, administered together with hormonal substitution for panhypopituitarism. Four months after her discharge, severe headaches recurred. Pituitary MRI was suggestive of a persistent inflammatory mass of the sellar region. She underwent a new transsphenoidal resection of a residual abscess. At that time, the sellar aspiration fluid was positive for Staphylococcus aureus and she was treated with antibiotics for 6 weeks, after which she had complete resolution of her infection. The possibility of a pituitary abscess, although rare, should be kept in mind during evaluation for a necrotic inflammatory pituitary mass with severe headaches and hormonal deficiencies.
Learning points:
-
The possibility of a pituitary abscess, although rare, should be kept in mind during evaluation for a necrotic inflammatory pituitary mass with severe headaches and hormonal deficiencies.
-
In a significant proportion of cases no pathogenic organism can be isolated.
-
A close follow-up is necessary given the risk of recurrence and the high rate of postoperative pituitary deficiencies.
