Endocrine Case Reports

Background: Only 10 cases of Graves disease coexistencing with a TSH-secreting pituitary adenoma (TSHoma) have been reported to date. We present a patient with a TSHoma identified based on the biochemical pattern developing while on treatment with anti-thyroid medications initiated after establishing the diagnosis Graves disease.Case report: A 44-year-old Caucasian lady presented with unintentional weight loss. Physical examination revealed d...

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ea0056gp118 | Endocrine Case Reports | ECE2018

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ea0056gp119 | Endocrine Case Reports | ECE2018

Non-syndromic multiple insulinomas with atypical clinico-biological presentation in two adult patients: a specific entity?

Bonnet-Serrano Fideline , Lethielleux Gaelle , Gaujoux Sebastien , North Marie-Odile , Terris Benoit , Guibourdenche Jean , Bertherat Jerome

Introduction: Insulinoma is the most frequent functional endocrine tumor of the pancreas but remains rare with an incidence of less than 5 cases by million and by year. It is often sporadic but can occur in the context of MEN1 in about 5% of cases, being then readily multiple. Clinically, it is typically responsible for fasting hypoglycemic episodes. Only one case of multiple insulinomas, with no obvious argument for MEN1 context, has previously been reported (Babic an al., <e...

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ea0056gp120 | Endocrine Case Reports | ECE2018

Langerhans cell histiocytosis: diagnosis on thyroid aspirate

Koseoglu Derya , Erenler Behice Hande , Kucukler Ferit Kerim

Langerhans cell histiocytosis (LCH) is a disease with monoclonal proliferation and infiltration of organs by Langerhans cell. LCH is commonly seen in the skeletal system and skin, but it may also involve paranchymal organs. Thyroid involvement in LCH is unusual, and coexistence of thyroid with lung involvement is seen very rare. Here we present a patient with LCH, who has thyroid and lung involvement.Case: A 26-old woman, who had LCH of the lung was refe...

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ea0056gp121 | Endocrine Case Reports | ECE2018

Coexistence of papillary thyroid cancer and malignancies of other organs in patients carrying CHEK2 gene mutations – case series.

Syrenicz Anhelli , Koziolek Monika , Sieradzka Anna , Rudnicka Marta , Kiedrowicz Bartek , Kazmierczyk-Puchalska Agnieszka

Introduction: CHEK2 mutations are associated with increased risk of having neoplasms of various organs, including thyroid, breast, colon, renal and ovarian cancers. Coexistence of thyroid and breast cancers was observed in female carriers of CHEK2 gene mutations. In polish population the most common mutations are those truncating CHEK2 protein (1100delC, IVS2+1G>A, del5395) and a missense I157T CHEK2 mutation. Carrying missense I157T mutation is connected with having twice...

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ea0056gp122 | Endocrine Case Reports | ECE2018

A case of nivolumab induced fulminant type 1 diabetes

Frunza-Stefan Simona , Whitlatch Hillary

Introduction: Immunotherapy has revolutionized the treatment of cancer. Nivolumab, an anti-programmed cell death 1(PD-1) antibody, is used to treat several malignancies refractory to standard chemotherapy. While highly effective at prolonging patient survival, these agents can induce a wide range of endocrine immune-related adverse events (irAEs), including hypophysitis, thyroid dysfunction, and, uncommonly, type 1 diabetes (T1DM). Here we describe a rare case of PD-1 inhibito...

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ea0056gp123 | Endocrine Case Reports | ECE2018

A rare case of type-2 familial partial lipodystrophy (FLD type 2) non-Dunnigan type with laminin A/C gene (LMNA) mutation causing multi-organ failure and diabetes mellitus

Frunza-Stefan Simona , Memon Raafia , Malek Rana , Streeten Elizabeth , Pollin Toni , Silver Kristi

Introduction: Mutations of the LMNA gene cause a wide range of diseases including lipodystrophy, myopathy [including dilated cardiomyopathy (DCM)], neuropathy and progeroid syndrome, and are collectively known as A-type laminopathies.Case report: A 51-year-old Caucasian male with history of heart, liver and kidney transplants was referred for evaluation and treatment of post-transplant diabetes. He was diagnosed with hypertriglyceridemia at age 38. At 43...

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ea0056gp124 | Endocrine Case Reports | ECE2018

MODY – a diagnosis to be considered in diabetes

Matta-Coelho Claudia , Alves Marta , Marques Olinda , Antunes Ana , Martins Sofia

Introduction: Maturity-Onset Diabetes of the Young (MODY) is a form of monogenic diabetes caused by mutations in islet-related genes characterized by early-onset and inheritance in an autosomal dominant manner. MODY accounts for 2 to 5% of all cases of diabetes. The clinical presentation is heterogenous. Our aim was to characterize clinical features of patients with MODY in our department.Methods: We retrospectively analysed MODY diabetes cases diagnosed...

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ea0056gp125 | Endocrine Case Reports | ECE2018

Hyperinsulinaemic hypoglycaemia in the three generations of a family with GCK, c.295T>C (p.Trp99Arg) mutation

Gilis-Januszewska Aleksandra , Skalniak Anna , Wilusz Malgorzata , Sokolowski Grzegorz , Walczyk Joanna , Pantoflinski Jacek , Pach Dorota , Przybylik-Mazurek Elwira , Hubalewska-Dydejczyk Alicja

Background: Familial Hyperinsulinaemic hypoglycaemia (FHH) is a very rare disease with heterogeneous clinical manifestation causing risk of late diagnosis or even misdiagnosis. In infants and children, it can lead to serious and permanent damage to the central nervous system. FHH has been correlated with mono-gene mutations in approximately 48% of cases. Clinical manifestation may vary even in the same affected GCK mutation family.Objective: To describe ...

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ea0056gp126 | Endocrine Case Reports | ECE2018

Acromegaly and acromegaloidism, two rare insulin-resistance conditions in one patient: reason for GH-IGF-1 discrepancy?

Freitas Paula , Guerreiro Vanessa , Bernardes Irene , Pereira Josue , Silva Roberto Pestana , Fernandes Susana , Carvalho David

Introduction: Lipodystrophies are a group of genetic or acquired diseases characterized by abnormal adipose tissue deposition, frequently associated with insulin resistance, diabetes mellitus, dyslipidaemia, hypertension and hepatic steatosis. Congenital generalized lipodystrophy (LCG) is a well-defined syndrome with autosomal recessive heredity, prevalence <1:10million, with about 400 cases being described. Extreme shortage of subcutaneous adipose tissue, muscle hypertrop...

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Endocrine Abstracts

20th European Congress of Endocrinology

Guided Posters

A rare case report of Graves disease with coexisting TSH producing pituitary adenoma

Non-syndromic multiple insulinomas with atypical clinico-biological presentation in two adult patients: a specific entity?

Langerhans cell histiocytosis: diagnosis on thyroid aspirate

Coexistence of papillary thyroid cancer and malignancies of other organs in patients carrying CHEK2 gene mutations – case series.

A case of nivolumab induced fulminant type 1 diabetes

A rare case of type-2 familial partial lipodystrophy (FLD type 2) non-Dunnigan type with laminin A/C gene (LMNA) mutation causing multi-organ failure and diabetes mellitus

MODY – a diagnosis to be considered in diabetes

Hyperinsulinaemic hypoglycaemia in the three generations of a family with GCK, c.295T>C (p.Trp99Arg) mutation

Acromegaly and acromegaloidism, two rare insulin-resistance conditions in one patient: reason for GH-IGF-1 discrepancy?

BiosciAbstracts