Explanipedia

OR25-06 Pituitary gigantism: how much different from acromegaly? A comparison of clinical features and mortality in 3244 Patients Open

Sonia Kaniuka‐Jakubowska, Mariusz Kaszubowski, Jessica Davis, Dayakshi Abeyaratne, Scott Akker , et al. · 2025

Disclosure: S. Kaniuka-Jakubowska: None. M. Kaszubowski: None. J. Davis: None. D. Abeyaratne: None. S.A. Akker: None. N. Archer: None. J. Ayuk: Ipsen. W. Drake: None. A. Grossman: None. M. Gurnell: Ipsen, Pfizer, Inc., Recordati. C.E. High…

Reassessing the role of the p.(Arg304Gln) missense AIP variant in pituitary tumorigenesis Open

Paul Benjamin Loughrey, Nadira B Mothojakan, Donato Iacovazzo, Ankit M Arni, Elena Daniela Aflorei , et al. · 2025

Objective Heterozygous germline loss-of-function variants in AIP are associated with young-onset growth hormone and/or prolactin-secreting pituitary tumours. However, the pathogenic role of the c.911G > A; p.(Arg304Gln) (R304Q) AIP vari…

Insulinomatosis: new aspects Open

Emanuel Christ, Donato Iacovazzo, Márta Korbonits, Aurel Perren · 2023

Endogenous hyperinsulinemic hypoglycemia (EHH) is a rare condition with an incidence of approximately 4–6 per million person-years and comprises a group of disorders causing hyperinsulinemic hypoglycemia without exogenous administration of…

Sex-biased islet β cell dysfunction is caused by the MODY MAFA S64F variant by inducing premature aging and senescence in males Open

Emily M. Walker, Jeeyeon Cha, Xin Tong, Min Guo, Jinhua Liu , et al. · 2021

GHRH secretion from a pancreatic neuroendocrine tumor causing gigantism in a patient with MEN1 Open

Vinaya Srirangam Nadhamuni, Donato Iacovazzo, Jane Evanson, Anju Sahdev, Jacqueline Trouillas , et al. · 2021

Summary A male patient with a germline mutation in MEN1 presented at the age of 18 with classical features of gigantism. Previously, he had undergone resection of an insulin-secreting pancreatic neuroendocrine tumour (pNET) at the age of 1…

Significant Benefits of AIP Testing and Clinical Screening in Familial Isolated and Young-onset Pituitary Tumors Open

Pedro Marques, Francisca Caimari, Laura C. Hernández‐Ramírez, David Collier, Donato Iacovazzo , et al. · 2020

Context Germline mutations in the aryl hydrocarbon receptor-interacting protein (AIP) gene are responsible for a subset of familial isolated pituitary adenoma (FIPA) cases and sporadic pituitary neuroendocrine tumors (PitNETs). Objective T…

Tumour-infiltrating cytotoxic T lymphocytes in somatotroph pituitary neuroendocrine tumours Open

Donato Iacovazzo, Sabrina Chiloiro, Eivind Carlsen, Antonio Bianchi, Antonella Giampietro , et al. · 2019

Surgery, Octreotide, Temozolomide, Bevacizumab, Radiotherapy, and Pegvisomant Treatment of an AIP Mutation‒Positive Child Open

Pinaki Dutta, Kavita S. Reddy, Ashutosh Rai, Anil K. Madugundu, Hitendra S. Solanki , et al. · 2019

Context Inactivating germline mutations in the aryl hydrocarbon receptor interacting protein (AIP) gene are linked to pituitary adenoma predisposition. Here, we present the youngest known patient with AIP-related pituitary adenoma. Case De…

Germline and mosaic mutations causing pituitary tumours: genetic and molecular aspects Open

Sara Pepe, Márta Korbonits, Donato Iacovazzo · 2018

While 95% of pituitary adenomas arise sporadically without a known inheritable predisposing mutation, in about 5% of the cases they can arise in a familial setting, either isolated (familial isolated pituitary adenoma or FIPA) or as part o…

Identifying disease causing variants in aryl hydrocarbon receptor-interacting protein (AIP) variants and their significance on the clinical phenotypes Open

Jordi Yang Zhou, Vignola M Lillina, David Collier, Lim Chung Thong, Donato Iacovazzo , et al. · 2018

Searchable abstracts of presentations at key conferences in endocrinology ISSN 1470-3947 (print) | ISSN 1479-6848 (online)

Risk category system to identify pituitary adenoma patients with AIP mutations Open

Francisca Caimari, Laura C. Hernández‐Ramírez, Mary Dang, Plamena Gabrovska, Donato Iacovazzo , et al. · 2018

Background Predictive tools to identify patients at risk for gene mutations related to pituitary adenomas are very helpful in clinical practice. We therefore aimed to develop and validate a reliable risk category system for aryl hydrocarbo…

Unusual AIP mutation and phenocopy in the family of a young patient with acromegalic gigantism Open

Syed Ali Imran, Khaled A Aldahmani, Lynette S. Penney, Sidney Croul, David B. Clarke , et al. · 2018

Summary Early-onset acromegaly causing gigantism is often associated with aryl-hydrocarbon-interacting receptor protein ( AIP ) mutation, especially if there is a positive family history. A15y male presented with tiredness and visual probl…

MAFA missense mutation causes familial insulinomatosis and diabetes mellitus Open

Donato Iacovazzo, Sarah E. Flanagan, Emily M. Walker, Rosana Quezado, Fernando Antonio de Sousa Barros , et al. · 2018

Significance We report a disease-causing mutation in the β-cell–enriched MAFA transcription factor. Strikingly, the missense p.Ser64Phe MAFA mutation was associated with either of two distinct phenotypes, multiple insulin-producing neuroen…

Pasireotide: successful treatment of a sparsely granulated tumour in a resistant case of acromegaly Open

WKMG Amarawardena, Kamani Liyanarachchi, John Newell‐Price, Richard Ross, Donato Iacovazzo , et al. · 2017

Summary The granulation pattern of somatotroph adenomas is well known to be associated with differing clinical and biochemical characteristics, and it has been shown that sparsely granulated tumours respond poorly to commonly used somatost…

In-frame seven amino-acid duplication in AIP arose over the last 3000 years, disrupts protein interaction and stability and is associated with gigantism Open

Roberto Salvatori, Serban Radian, Yoan Diekmann, Donato Iacovazzo, Alessia David , et al. · 2017

Objective Mutations in the aryl hydrocarbon receptor-interacting protein ( AIP ) gene are associated with pituitary adenoma, acromegaly and gigantism. Identical alleles in unrelated pedigrees could be inherited from a common ancestor or re…

PRKAR1A mutation causing pituitary-dependent Cushing disease in a patient with Carney complex Open

Florian W. Kiefer, Yvonne Winhofer, Donato Iacovazzo, Márta Korbonits, Stefan Wolfsberger , et al. · 2017

Context Carney complex (CNC) is an autosomal dominant condition caused, in most cases, by an inactivating mutation of the PRKAR1A gene, which encodes for the type 1 alpha regulatory subunit of protein kinase A. CNC is characterized by the …

SDHA mutated paragangliomas may be at high risk of metastasis Open

Nicola Tufton, Rahul Ghelani, Umasuthan Srirangalingam, Ajith Kumar, William M Drake , et al. · 2017

Rapid Proteasomal Degradation of Mutant Proteins Is the Primary Mechanism Leading to Tumorigenesis in Patients With MissenseAIPMutations Open

Laura C. Hernández‐Ramírez, F. Martucci, Rhodri M. L. Morgan, Giampaolo Trivellin, Daniel Tilley , et al. · 2016

AIP is a stable protein, driven to ubiquitination by the SKP1-CUL1-F-box protein complex. Enhanced proteasomal degradation is a novel pathogenic mechanism for AIPmuts, with direct implications for the phenotype.

Germline or somatic GPR101 duplication leads to X-linked acrogigantism: a clinico-pathological and genetic study Open

Donato Iacovazzo, Richard Caswell, Benjamin Bunce, Sian Jose, Bo Yuan , et al. · 2016

Bone metabolism in acromegaly Open

Antonella Giampietro, Sabrina Chiloiro, Marilda Mormando, Chiara Bima, Maria Elena Bracaccia , et al. · 2016

Searchable abstracts of presentations at key conferences in endocrinology ISSN 1470-3947 (print) | ISSN 1479-6848 (online)

SomaticGPR101Duplication Causing X-Linked Acrogigantism (XLAG)—Diagnosis and Management Open

Celia Rodd, Maude Millette, Donato Iacovazzo, Craig E Stiles, Sayka Barry , et al. · 2016

Our patient is the first to be described with somatic microduplication leading to typical XLAG phenotype. This patient demonstrates that a negative test for Xq26.3 microduplication or GPR101 duplication on peripheral blood DNA does not exc…

Landscape of Familial Isolated and Young-Onset Pituitary Adenomas: Prospective Diagnosis inAIPMutation Carriers Open

Laura C. Hernández‐Ramírez, Plamena Gabrovska, Judit Dénes, Karen Stals, Giampaolo Trivellin , et al. · 2015

A quarter of the AIPmut carriers screened were diagnosed with pituitary disease, justifying this screening and suggesting a variable clinical course for AIPmut-positive pituitary adenomas.

Typical and Atypical Pituitary Adenomas: A Single-Center Analysis of Outcome and Prognosis Open

Sabrina Chiloiro, Francesco Doglietto, Barbara Trapasso, Donato Iacovazzo, Antonella Giampietro , et al. · 2015

Background and Objective: In 2004, the World Health Organization defined atypical pituitary adenomas as those with a Ki-67 expression >3%, an excessive p53 expression and increased mitotic activity. As the usefulness of this …

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