DOCSLIB.ORG

Neuroendocrine Imaging

Total Page：16

File Type：pdf, Size：1020Kb

Download full-text PDF Read full-text
Neuroendocrine Imaging ACR APPROPRIATENESS CRITERIA Neuroendocrine Imaging D.J. Seidenwurm, for the Expert Panel on Neurologic Imaging maging of the hypothalamic pituitary axis is based on spe- pending on serum hormone level. In males, prolactinomas Icific endocrine testing suggested by clinical signs and symp- may be entirely asymptomatic until visual symptoms occur, toms. Endocrine disorders are generally characterized by ex- due to compression of the chiasm, or they may result in hy- cess or deficiency of specific hormones. Hormone excess is pogonadotropic hypogonadism with loss of libido and impo- diagnosed under conditions that would ordinarily suppress tence. Growth-hormone-secreting tumors generally are larger hormone secretion. Endocrine deficiencies are diagnosed on lesions manifesting clinical acromegaly. Because of the gradual the basis of hormone measurements under conditions of stim- onset of deformity, these tumors may be present for many ulation. Specific clinical syndromes of hormonal disorders are years and grow to substantial size. Before puberty excessive determined by the physiologic role of that particular GH may result in gigantism. TSH- and ACTH-secreting tu- hormone. mors may present at very small size because the impact of their The hypothalamic pituitary axis consists of 2 separate neu- hormone product is usually apparent more rapidly. Gonado- roendocrine organs, the anterior and posterior pituitary sys- tropin-secreting tumors are rare. tems. The hormones of the anterior pituitary are thyroid stim- Precocious puberty and other neurologic symptoms can be ulating hormone (TSH), adrenal corticotrophic hormone produced by hypothalamic lesions such as hamartoma. MR (ACTH), prolactin (PRL), growth hormone (GH), and the imaging is generally indicated in all patients with endocrino- gonadotropins (FSH and LH). These are secreted under the logically confirmed precocious puberty, especially when rapid influence of hypothalamic trophic factors, corticotrophin re- progression of development and neurologic symptoms are leasing factor (CRF), thyrotropin releasing factor (TRF), and present. ACR CRITERIA somatostatin- and gonadotropin- releasing hormone Posterior pituitary dysfunction with loss of antidiuretic (GnRH). Prolactin release is under the control of a dopami- hormone results in diabetes insipidus. This may be transient nergic circuit. The hypothalamic-releasing hormones are after trauma or neurosurgical procedures. Imaging is per- transported to the pituitary gland by the hypophyseal portal formed to search for the cause of stalk transsection, which can system. be a manifestation of numerous sellar or parasellar patholo- The posterior pituitary gland consists of axonal termina- gies, trauma, or congenital. Rarely, the hormone is absent de- tions of neurons whose cell bodies are located in the hypothal- velopmentally. The syndrome of inappropriate ADH is usu- amus. The principal hormones secreted by these cells are oxy- ally due to an extracranial source. Frequently, a paraneoplastic tocin and vasopressin or antidiuretic hormone (ADH). The phenomenon in small-cell lung carcinoma, though a variety of hypothalamus also participates in complex mediation of food pulmonary diseases and pharmacological disturbances can re- intake, temperature regulation, sleep and arousal, memory, sult in syndrome of inappropriate anti-diuretic hormone. thirst, and other autonomic functions. Other common mass lesions that may affect the neuroen- Structural causes of obesity, anorexia, central hypothermia docrine system are germ-line tumors, meningioma, cranio- and hyperthermia, insomnia, and hypersomnia are only very pharyngioma, and Rathke cleft cyst among others. Metastatic rarely demonstrated. Imaging in these patients absent other lesions may affect the sella. Sarcoid and other inflammatory specific neurologic or endocrine abnormality is almost always processes occur in the sellar and suprasellar regions as well. unrewarding. An exception is children in whom the “dience- Pituitary apoplexy is a syndrome of headache ophthalmople- phalic syndrome” of hypothalamic lesions is relatively gia and visual loss that results from pituitary hemorrhage. In common. the postpartum period, pituitary infarcts may occur, and hy- Pituitary adenomas are the most common lesions of the pophysitis is an uncommon disorder resulting in endocrine pituitary gland. These may secrete prolactin, TSH, GH, disturbance and other symptoms. ACTH, or gonadotropins. Prolactinomas most commonly MR imaging with thin-section multiplanar imaging often present as microadenomas in premenopausal females with before and after contrast administration is the most useful test amenorrhea and galactorrhea. Prolactin elevation by itself is for these indications. Supplemental techniques include CT an- nonspecific and may be due to a variety of medical, neurologic, giography (CTA), MR angiography (MRA), direct conven- or pharmacological causes as well as pituitary adenoma, de- tional angiography, and petrosal sinus sampling. Plain radiography and pluridirectional tomography are in- This article is a summary of the complete version of this topic, which is available on the ACR Website at www.acr.org/ac. Practitioners are encouraged to refer to the complete sensitive and nonspecific. Pituitary microadenoma and mac- version. roadenomas are frequently associated with a normal sella size. Reprinted with permission of the American College of Radiology. The sella turcica can be enlarged when no neoplasm or mass is Please address correspondence to David J. Seidenwurm, MD, Department of Quality & present. This is due to pulsations of cerebral spinal fluid (CSF) Safety, American College of Radiology, 1891 Preston White Dr, Reston, VA 20191-4397. transmitted through a developmental or acquired dehiscence AJNR Am J Neuroradiol 29:613–15 ͉ Mar 2008 ͉ www.ajnr.org 613 Clinical condition: neuroendocrine imaging CT Head MRI Head MRI Head without and CT Head INV without and without with without MRA CTA Venous with Contrast Contrast Contrast Contrast Head Head Sampling Hypopituitarism 8a 7a 4b 4b 3c 2d 1 Obesity/eating disorder 4ae 4ae 3be 3be 21 1 Hyperthyroidism (high TSH) 8a 7a 3b 3b 32d 1 Cushing’s syndrome (high ACTH) 8a 7a 4b 4b 3c 24f Hyperprolactinemia 8a 7a 4b 4b 3c 2d 1g Acromegaly/gigantism 8a 7a 4b 4b 3c 2d 3g Dwarfism (proportionate) 5a 7a 4b 4b 22d 1 Diabetes insipidus 6a 7a 4b 4b 42d 1 Pituitary apoplexy 8a 7a 4b 64c 41 Postoperative sella 8a 7a 4h 4h 24 1 Precocious puberty 8a 7a 22221 Note:—Rating Scale: 1, least appropriate; 9, most appropriate a Multiplanar thin sellar imaging b Indicated if MRI not available or contraindicated c Indicated if better visualization of carotid arteries needed d For surgical planning or vascular detail if MRI and MRA contraindicated e In carefully selected patients with high clinical likelihood of structural abnormality f Indicated if MRI is negative or equivocal g Indicated in unusual cases in which lateralization is indeterminate h CT may be indicated to assess bony anatomy and if MRI is not available or contraindicated. of the diaphragm sella in the empty sella syndrome. Therefore, Petrosal sinus venous sampling is only performed when these imaging modalities are rarely, if ever, useful here. there is definite excess of pituitary hormone, medical manage- CT especially with intravenous contrast, to depict pathol- ment has failed, sectional imaging is negative or equivocal and ogy within the unenlarged sella, occasionally facilitates diag- surgery is planned. When significant differences in hormone nosis of neuroendocrine abnormality. Pituitary microadeno- level, usually ACTH, exists among the vessels studied, tumor mas and macroadenomas are often detected. There is localization is very accurate. Complications occur uncom- difficulty in distinguishing tumor from the optic chiasm, di- monly in experienced hands. agnosis of cavernous sinus invasion is difficult, and cystic su- A significant problem in CT and MR imaging of the pitu- prasellar masses may be confused with normal CSF. Addition- itary, particularly when endocrine findings suggest microad- ally, artifact due to dental amalgam, difficulty in obtaining enoma, is the false-positive examination. Since the endocrine reliable contrast enhancement, and awkward positioning for studies confirm the presence of a lesion, and first-line therapy direct coronal scanning limit utility. In the hands of experi- is usually medical, false-negative examinations are less prob- enced radiologists this technique can be useful, though the lematic once chiasmatic compression has been excluded. Ap- examinations are frequently difficult to interpret despite ex- proximately 20% of the population may harbor incidental cellent technique. nonfunctioning adenomas or cysts. It is important, therefore, MR imaging provides excellent noninvasive evaluation of that the probability of disease be high in the target population the hypothalamus and pituitary gland. It is the only imaging if a positive MR imaging is to be relied upon for surgical plan- technique that reliably depicts the hypothalamus usefully. It ning. Additional problems are created by variations in size of depicts the anatomy of the pituitary gland, infundibulum, op- the pituitary gland, which occur normally in response to phys- tic chiasm, cavernous sinuses, and neighboring vascular struc- iologic hormonal changes. The gland may enlarge in puberty tures accurately and noninvasively. The addition of gadolin- and pregnancy. Pituitary hyperplasia in hypothyroidism may ium facilitates
Load more

Recommended publications
  • GH/IGF-1 Abnormalities and Muscle Impairment: from Basic Research to Clinical Practice
    International Journal of Molecular Sciences Review GH/IGF-1 Abnormalities and Muscle Impairment: From Basic Research to Clinical Practice Betina Biagetti * and Rafael Simó * Diabetes and Metabolism Research Unit, Vall d’Hebron Research Institute and CIBERDEM (ISCIII), Universidad Autónoma de Barcelona, 08193 Bellaterra, Spain * Correspondence: [email protected] (B.B.); [email protected] (R.S.); Tel.: +34-934894172 (B.B.); +34-934894172 (R.S.) Abstract: The impairment of skeletal muscle function is one of the most debilitating least understood co-morbidity that accompanies acromegaly (ACRO). Despite being one of the major determinants of these patients’ poor quality of life, there is limited evidence related to the underlying mechanisms and treatment options. Although growth hormone (GH) and insulin-like growth factor-1 (IGF-1) levels are associated, albeit not indisputable, with the presence and severity of ACRO myopathies the precise effects attributed to increased GH or IGF-1 levels are still unclear. Yet, cell lines and animal models can help us bridge these gaps. This review aims to describe the evidence regarding the role of GH and IGF-1 in muscle anabolism, from the basic to the clinical setting with special emphasis on ACRO. We also pinpoint future perspectives and research lines that should be considered for improving our knowledge in the field. Keywords: acromegaly; myopathy; review; growth hormone; IGF-1 1. Introduction Acromegaly (ACRO) is a rare chronic disfiguring and multisystem disease due to Citation: Biagetti, B.; Simó, R. non-suppressible growth hormone (GH) over-secretion, commonly caused by a pituitary GH/IGF-1 Abnormalities and Muscle tumour [1].
    [Show full text]
  • Acromegaly Your Questions Answered Patient Information • Acromegaly
    PATIENT INFORMATION ACROMEGALY YOUR QUESTIONS ANSWERED PATIENT INFORMATION • ACROMEGALY Contents What is acromegaly? 1 What does growth hormone do? 1 What causes acromegaly? 2 What is acromegaly? Acromegaly is a rare disease characterized by What are the signs and symptoms of acromegaly? 2 excessive secretion of growth hormone (GH) by a pituitary tumor into the bloodstream. How is acromegaly diagnosed? 5 What does growth hormone do? What are the treatment options for acromegaly? 6 Growth hormone (GH) is responsible for growth and development of the human body especially during childhood and adolescence. In addition, Will I need treatment with any other hormones? 9 GH has important functions during later life. It influences fat and glucose (sugar) metabolism, and muscle and bone strength. Growth hormone is How can I expect to feel after treatment? 9 produced in the pituitary gland which is a small bean-sized organ located just underneath the brain (Figure 1). The pituitary gland also secretes How should patients with acromegaly be followed after initial treatment? 9 other hormones into the bloodstream to regulate important functions including reproduction, energy, breast lactation, water balance control, and metabolism. What do I need to do if I have acromegaly? 10 Acromegaly Frequently Asked Questions (FAQs) 10 Glossary inside back cover Pituitary gland Funding was provided by Ipsen Group, Novo Nordisk, Inc. and Pfizer, Inc. through Figure 1. Location of the pituitary gland. unrestricted educational grants. This is the fourth of the series of informational pamphlets provided by The Pituitary Society. Supported by an unrestricted educational grant from Eli Lilly and Company.
    [Show full text]
  • Acromegaly in a Girl of 8 Years
    Arch Dis Child: first published as 10.1136/adc.33.167.49 on 1 February 1958. Downloaded from ACROMEGALY IN A GIRL OF 8 YEARS BY R. McLAREN TODD From the Department of Child Health, University ofLiverpool (RECEIVED FOR PUBLICATION JUNE 21, 1957) Pierre Marie in 1886 first suggested the name of 6 years who lived in Brno (Traub, 1939) and acromegaly for a clinical condition associated with showed acromegalic gigantism associated with bony enlargement of the extremities (aKpa) which he changes in the right hip, tarsal scaphoids, metatarsals had observed in two women aged 37 and 54 years. and vertebral bodies. Marie reviewed the literature and found records of Case Report five male patients (two of whom were brothers) G.O. was born on August 23, 1947, after a normal with similar features; the earliest of these descrip- pregnancy and delivery. She weighed 7j lb. at birth and tions concerned a man of 39 years reported by developed normally until the age of 5 years when she Saucerotte (1772). Marie also discussed the had a mild attack of whooping cough. After this illness differential diagnosis of acromegaly from myx- her mother noticed that she tired easily and that she was oedema, Paget's disease of bone (osteitis deformans) putting on weight excessively. It was not until two years later that the symptoms became more obvious. She and leontiasis ossea of Virchow. consulted her family doctor (Dr. W. Jones Morris) in Although Saucerotte's account is probably the July, 1954, when she was 6 years 11 months old because earliest medical description of acromegaly, the con- of persistent nasal catarrh and he observed the acro- dition was well known to ancient writers.
    [Show full text]
  • Lessons from Growth Hormone Receptor Gene-Disrupted Mice
    5 178 R Basu, Y Qian and others Lessons from GHR-disrupted mice 178:5 R155–R181 Review MECHANISMS IN ENDOCRINOLOGY Lessons from growth hormone receptor gene-disrupted mice: are there benefits of endocrine defects? Reetobrata Basu1,*, Yanrong Qian1,* and John J Kopchick1,2 1 2 Edison Biotechnology Institute, Ohio University, Athens, Ohio, USA and Ohio University Heritage College of Correspondence Osteopathic Medicine, Ohio University, Athens, Ohio, USA should be addressed to J J Kopchick *(R Basu and Y Qian contributed equally to this work) Email [email protected] Abstract Growth hormone (GH) is produced primarily by anterior pituitary somatotroph cells. Numerous acute human (h) GH treatment and long-term follow-up studies and extensive use of animal models of GH action have shaped the body of GH research over the past 70 years. Work on the GH receptor (R)-knockout (GHRKO) mice and results of studies on GH-resistant Laron Syndrome (LS) patients have helped define many physiological actions of GH including those dealing with metabolism, obesity, cancer, diabetes, cognition and aging/longevity. In this review, we have discussed several issues dealing with these biological effects of GH and attempt to answer the question of whether decreased GH action may be beneficial. European Journal of Endocrinology European Journal European of Endocrinology (2018) 178, R155–R181 Introduction An extensive body of basic and clinical research over the with distinct catabolic and anabolic roles across many last 70 years focusing on growth hormone (GH) and its tissue types and throughout the lifespan of an individual. cognate receptor (GHR) has yielded a tremendous amount The clinical conditions of GH excess usually due to a of animal and human data.
    [Show full text]
  • PROGERIA (HUTCHINSON-GILFORD SYNDROME) REPORT of a CASE and REVIEW of TUE LITERATURE by JAMES THOMSON and JOHN 0
    Arch Dis Child: first published as 10.1136/adc.25.123.224 on 1 September 1950. Downloaded from PROGERIA (HUTCHINSON-GILFORD SYNDROME) REPORT OF A CASE AND REVIEW OF TUE LITERATURE BY JAMES THOMSON and JOHN 0. FORFAR From the Department of Medical Diseases of Children, University of St. Andrews and Royal Infirmary, Dundee (RECEIVE FOR PUBUCATrON JANUARY 24, 1950) . the poor little boy didn't live to contrive, a typical progerian skull. Cases have, however, been His health didn't thrive, described in foreign literature and the outstanding No longer alive, He died an enfeebled old dotard at five. feature of these descriptions is the striking similarity W. S. GILBERT (1869). in appearance which all typical cases present. Variot and Pironneau (1910), unaware of Gilford's The fist case ofprogeria to be described in medical work, used the term nanisme senile in describing literature was that of Hutchinson in 1886, under the their case. A case described by Schippers (1916) title of ' Congenital Absence of Hair and Mammary was redescribed by Manschot (1940) 24 years later. Protected by copyright. Glands.' Hastings Gilford (I 8S9 ) recognizng me con- dition as a clinical entity, described a case of his own (Figs. 1 and 2) and redes- cribed Hutchinson's original case. He introduced the term progeria ( ;pos piematurely old). There is a tendency to use this term in connexion with other forms of early senility both in children and in adults but we agree with Crooke (1948) http://adc.bmj.com/ that it should be reserved for the specific syndrome first described by Hutchinson and Gilford.
    [Show full text]
  • Towards an Earlier Diagnosis of Acromegaly and Gigantism
    Journal of Clinical Medicine Review Towards an Earlier Diagnosis of Acromegaly and Gigantism Jill Sisco 1 and Aart J. van der Lely 2,* 1 Acromegaly Community Patient’s Advocacy Organization, Grove, OK 74344, USA; [email protected] 2 Division of Endocrinology, Erasmus University MC, 3000 CA Rotterdam, The Netherlands * Correspondence: [email protected] Abstract: Acromegaly is a rare disease and the clinical features of acromegaly develop insidiously; its diagnosis is often significantly delayed. Therefore, earlier diagnosis will improve the quality of life of the patient and reduce the need for other therapies to control the initial and ongoing damage that acromegaly presents. In this chapter, we describe the view of the patient and the clinician on the importance of earlier diagnosis, as well as on what can be done to speed up this process. Earlier diagnosis will not only improve quality of life and the burden of disease in acromegaly patients, but it will also have a positive impact in the economic burden of this rare disease. Keywords: acromegaly; pituitary; diagnosis; delay; signs and symptoms 1. Introduction Acromegaly is a rare disease, most often caused by a growth hormone (GH) producing tumor of the anterior pituitary [1]. As the clinical features of acromegaly develop insidi- Citation: Sisco, J.; van der Lely, A.J. ously, its diagnosis is often significantly delayed. Early diagnosis and proper treatment Towards an Earlier Diagnosis of of the diseases can prevent the development of irreversible complications of the disease Acromegaly and Gigantism. J. Clin. and improve the quality of life in patients suffering from the disease [2].
    [Show full text]
  • Book No. 1 Single Pages
    Growth and Growth Disorders SERIES 1 SERIES 2 SERIES 3 SERIES 4 SERIES 5 SERIES 6 SERIES 7 SERIES 8 SERIES 9 SERIES 10 SERIES 11 SERIES 12 SERIES 13 SERIES 14 SERIES 15 SERIES 16 CHILD GROWTH FOUNDATION BSPED THE CHILD GROWTH FOUNDATION Registered Charity No. 1172807 21 Malvern Drive Walmley Sutton Coldfield B76 1PZ Telephone: +44 (0)20 8995 0257 Email: [email protected] www.childgrowthfoundation.org GROWTH AND GROWTH DISORDERS – SERIES NO: 1 (THIRD EDITION, SEPTEMBER 2000). Written by Dr Richard Stanhope (Gt. Ormond Street/Middlesex Hospital, London) and Mrs Vreli Fry (Child Growth Foundation) CGF INFORMATION BOOKLETS The following are also available: No. Title 1. Growth and Growth Disorders 2. Growth Hormone Deficiency (Puberty and the Growth Hormone Deficient Child now incorporated in 2 above) 4. Premature Sexual Maturation 5. Emergency Information Pack for Children with Cortisol and GH Deficiencies and those Experiencing Recurrent Hypoglycaemia 6. Congenital Adrenal Hyperplasia 7. Growth Hormone Deficiency in Adults 8. Turner Syndrome 9. The Turner Woman 10. Constitutional Delay of Growth & Puberty 11. Multiple Pituitary Hormone Deficiency 12. Diabetes Insipidus 13. Craniopharyngioma 14. Intrauterine Growth Retardation 15. Thyroid Disorders © These booklets are supported through an unrestricted educational grant from Serono Ltd., Bedfont Cross, Stanwell Road, Feltham, Middlesex TW14 8NX, UK. Tel. 020 8818 7200 CONTENTS Page Booklets in the series Inside Front INTRODUCTION 3 Centile charts and growth assessment equipment 4
    [Show full text]
  • Extraordinary Case Presentations in Pediatric Pituitary Adenoma: Report of 6 Cases
    CASE REPORT J Neurosurg Pediatr 25:43–50, 2020 Extraordinary case presentations in pediatric pituitary adenoma: report of 6 cases Jenna Meyer, MS, Avital Perry, MD, Soliman Oushy, MD, Christopher S. Graffeo, MD, MS, Lucas P. Carlstrom, MD, PhD, and Fredric B. Meyer, MD Department of Neurologic Surgery, Mayo Clinic, Rochester, Minnesota Pediatric pituitary adenomas (PPAs) are rare neoplasms with a propensity for unusual presentations and an aggressive clinical course. Here, the authors describe 6 highly atypical PPAs to highlight this tendency and discuss unexpected management challenges. A 14-year-old girl presented with acute hemiparesis and aphasia. MRI revealed a pituitary macroadenoma causing inter- nal carotid artery invasion/obliteration without acute apoplexy, which was treated via emergent transsphenoidal resection (TSR). Another 14-year-old girl developed precocious galactorrhea due to macroprolactinoma, which was medically managed. Several years later, she re-presented with acute, severe, bitemporal hemianopia during her third trimester of pregnancy, requiring emergent induction of labor followed by TSR. A 13-year-old boy was incidentally diagnosed with a prolactinoma after routine orthodontic radiographs captured a subtly abnormal sella. An 18-year-old male self-diagnosed pituitary gigantism through a school report on pituitary disease. A 17-year-old boy was diagnosed with Cushing disease by his basketball coach, a former endocrinologist. A 12-year-old girl with growth arrest and weight gain was diagnosed with Cushing disease, which was initially treated via TSR but subsequently recurred and ultimately required 12 opera- tions, 5 radiation treatments involving 3 modalities, bilateral adrenalectomy, and chemotherapy. Despite these efforts, she ultimately died from pituitary carcinoma.
    [Show full text]
  • Growth Hormone Excess in Neurofibromatosis 1
    CORRESPONDENCE © American College of Medical Genetics and Genomics Growth hormone excess in adult height is an important characteristic of NF1, clinicians should not be deterred from screening short individuals with neurofibromatosis 1 NF1 for GH excess, particularly if the aforementioned features of overgrowth exist. Biochemical screening for GH excess in NF1 should follow The authors of the recent American College of Medical existing guidelines for the diagnosis of gigantism and Genetics and Genomics clinical practice resource on the care acromegaly. This includes measurement of serum IGF-1 and of adults with neurofibromatosis type 1 (NF1) (ref. 1) are to be GH levels that can be paired in a random sample. Normal commended for their comprehensive publication. However, IGF-1 and GH levels may be encountered in patients with an important comorbidity that affects patients with NF1 was NF1 and suspected gigantism and/or acromegaly; in such left out and remains generally underrecognized by clinicians: cases, serial overnight GH sampling may be performed in growth hormone (GH) excess leading to either clinical or specialized centers.3 GH excess is confirmed with elevated subclinical gigantism or acromegaly. These two disorders IGF-1 and lack of GH suppression to levels <1 ng/mL after the represent a continuum of clinical manifestations and are oral glucose tolerance test. Once confirmed, imaging of the distinguished by the status of the epiphyseal growth plates pituitary, suprasellar, and optic tracts is recommended for with respect to GH excess. evaluating pituitary lesions, hypothalamic infiltrations, or GH excess is generally a rare disease in children and adults OPT, respectively.
    [Show full text]
  • Pituitary Gigantism in the Same Family
    DR PEDRO MARQUES (Orcid ID : 0000-0002-4959-5725) Article type : 9 Case Report Coexisting pituitary and non-pituitary gigantism in the same family Pedro Marques1, David Collier1, Ariel Barkan2, Márta Korbonits1 1 Centre for Endocrinology, William Harvey Research Institute, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, UK 2 Department of Neurosurgery, University of Michigan, Ann Arbor, Michigan, USA Corresponding author: Prof. Márta Korbonits [email protected] Centre for Endocrinology, William Harvey Research Institute, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, UK Word count: 799 Figures: 1 References: 5 Germline aryl hydrocarbon receptor-interacting protein (AIP) mutations are present in 15-30% of familial isolated pituitary adenoma (FIPA) families, and are responsible for 30% of pituitary gigantism cases (1). However, pathological accelerated growth and/or tall stature can be unrelated to the growth hormone (GH) axis, and may occur in isolation or as part of a syndrome, such as in Klinefelter, Marfan or Sotos syndromes (2). Author Manuscript Here, we report a five-generation kindred with two brothers with pituitary gigantism due to AIP mutation- This is the author manuscript accepted for publication and has undergone full peer review but has not been through the copyediting, typesetting, pagination and proofreading process, which may lead to differences between this version and the Version of Record. Please cite this article as doi: 10.1111/cen.13852 This article is protected by copyright. All rights reserved positive GH-secreting pituitary adenomas and their first-cousin coincidently also having gigantism due to Marfan syndrome (Figure 1).
    [Show full text]
  • Early Descriptions of Acromegaly and Gigantism and Their Historical Evolution As Clinical Entities
    Neurosurg Focus 29 (4):E1, 2010 Early descriptions of acromegaly and gigantism and their historical evolution as clinical entities Historical vignette ANTONIOS Mamm IS , M.D., JE A N AN D ERSON ELOY , M.D., A N D Jam ES K. LIU, M.D. Department of Neurological Surgery, Division of Otolaryngology, University of Medicine and Dentistry of New Jersey, New Jersey Medical School, Neurological Institute of New Jersey, Newark, New Jersey Giants have been a subject of fascination throughout history. Whereas descriptions of giants have existed in the lay literature for millennia, the first attempt at a medical description was published by Johannes Wier in 1567. How- ever, it was Pierre Marie, in 1886, who established the term “acromegaly” for the first time and established a distinct clinical diagnosis with clear clinical descriptions in 2 patients with the characteristic presentation. Multiple autopsy findings revealed a consistent correlation between acromegaly and pituitary enlargement. In 1909, Harvey Cushing postulated a “hormone of growth” as the underlying pathophysiological trigger involved in pituitary hypersecretion in patients with acromegaly. This theory was supported by his observations of clinical remission in patients with ac- romegaly in whom he had performed hypophysectomy. In this paper, the authors present some of the early accounts of acromegaly and gigantism, and describe its historical evolution as a medical and surgical entity. (DOI: 10.3171/2010.7.FOCUS10160) KEY WOR D S • acromegaly • gigantism • historical vignette • pituitary tumor CROMEG A LIC individuals and giants have been the very marked prognathism, flattened and indented laterally, as if the cheeks had been elevated by a blow from the hatchet on subject of fascination for millennia.
    [Show full text]
  • View Eposter
    Gigantism due two different causes in the same family: AIP mutation-positive acromegaly and Marfan syndrome Pedro Marques1, David Collier1, Ariel Barkan2, Márta Korbonits1 1Centre for Endocrinology, William Harvey Research Institute, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, London, UK 2Department of Neurosurgery, University of Michigan, Ann Arbor, Michigan, USA Correspondence: [email protected] or [email protected] Introduction • Germline aryl hydrocarbon receptor-interacting protein (AIP) mutations are responsible for 30% of pituitary gigantism cases1. • Pathological accelerated growth and/or tall stature can be unrelated to the growth hormone (GH) axis, and may occur in isolation or as part of a syndrome, such as in Klinefelter, Marfan or Sotos syndromes2. • Pseudoacromegaly is a term used to describe patients with gigantism and/or acromegaly features but with no abnormalities in the GH axis3. • We report a five-generation kindred with two brothers having pituitary gigantism due to AIP mutation-positive GH-secreting pituitary adenomas and their first- cousin coincidently also having gigantism due to Marfan syndrome. Case description The proband (IV.c) • Presented with accelerated growth at age of 8y • At the age of 10y, he measured 153 cm (height SDS+2.1) • Diagnosed with pituitary gigantism due to a 2.5 cm-pituitary adenoma co-expressing GH and prolactin • Treated unsuccessfully with surgery, cabergoline and octreotide; responded to pegvisomant4 . • His final height is 200 cm (Figure
    [Show full text]