Searchable abstracts of presentations at key conferences in endocrinology

ea0056s20.2 | All you need to know about lipodystrophy (Endorsed by Endocrine Connections) | ECE2018

Acquired forms of lipodystrophy

Ceccarini Giovanni

Acquired lipodystrophies (AL) are syndromes characterized by an irreversible loss of subcutaneous adipose tissue and are conventionally distinct in partial (Barraquer-Simons) or generalized forms (Lawrence Syndrome) based on the pattern of adipose tissue disappearance. Alike to congenital forms, AL exhibit metabolic abnormalities that include insulin resistance, diabetes mellitus, hypertliglycerdidemia, reduced leptin levels, hepatomegaly and steatosis. While in most cases of ...

ea0063p610 | Diabetes, Obesity and Metabolism 2 | ECE2019

Description of a novel AGPAT2 gene mutation (R159C) responsible for congenital generalized lipoatrophy type 1 (Berardinelli-Seip Syndrome)

Magno Silvia , Ceccarini Giovanni , Pelosini Caterina , Ferrari Federica , Scabia Gaia , Maffei Margherita , Vitti Paolo , Santini Ferruccio

Berardinelli-Seip congenital lipoatrophy type 1 (BSCL1) is a rare autosomal recessive disease caused by mutations in the AGPAT2 gene. This syndrome is characterized by near total absence of adipose tissue since birth, associated with the progressive development of metabolic complications. The AGPAT2 gene encodes for 1-acylglycerol-3phosphate-O-acyltransferase highly expressed in white adipocytes that catalyzes the acylation of lysophosphatidic acid to form phosphatidic acid, a...

ea0049ep238 | Bone & Osteoporosis | ECE2017

Teriparatide discontinuation in a patient with post surgical hypoparathyroidism: a clinical challenge

Brancatella Alessandro , Apicella Matteo , Fiore Emilio , Ceccarini Giovanni , Vignali Edda , Marcocci Claudio , Vitti Paolo , Molinaro Eleonora

Context: Teriparatide may represent a possible treatment for hypoparathyroidism when oral supplementation with calcium and calcitriol fail to maintain adequate serum calcium level (SCL). The switch from teriparitide to oral calcium and calcitriol could be challenging and there is no consensus for clinical management.Case presentation: A 50-year-old man was admitted at our Department for teriparatide discontinuation. Three years before admission, the pati...

ea0049ep397 | Clinical case reports - Thyroid/Others | ECE2017

Acquired generalized lipodystrophy associated with latent autoimmune diabetes mellitus in adults: a new metabolic phenotype

Ferrari Federica , Maranghi Marianna , Ceccarini Giovanni , Magno Silvia , Pelosini Caterina , Maffei Margherita , Vitti Paolo , Arca Marcello , Santini Feruccio

Introduction: Acquired generalized lipodystrophies (AGL) are rare syndromes characterized by complete loss of subcutaneous adipose tissue and very low serum leptin levels. AGL are complicated by severe insulin resistance, diabetes mellitus, dyslipidemia and fatty liver. In most patients evidence exists of an autoimmune etiology.Case report: We herein describe the case of a Caucasian woman who was diagnosed with lipodistrophy at 5 years of age, when she b...

ea0073pep12.6 | Presented ePosters 12: Diabetes, Obesity, Metabolism and Nutrition | ECE2021

Serum leptin and urine cortisol to cortisone ratio are correlated in familiar partial lipodystrophy type I (Kobberling Syndrome)

Daffara Tommaso , Mancioppi Valentina , Caputo Marina , Leone Ilaria , Ferrero Alice , Pelosini Caterina , Santini Ferruccio , Aimaretti Gianluca , Ceccarini Giovanni , Prodam Flavia

BackgroundIn lipodystrophy (LD) adipose tissue function is impaired, leading to a severe metabolic syndrome. Familiar Partial LD (FPLD) type I (Kobberling Syndrome) overlaps with CushingÂ’s syndrome phenotype. The latter and the metabolic impairment observed in FPLD1 may suggest a crosstalk between the HPA axis, assuming that leptin sensitivity is preserved in this context. We aimed to evaluate if leptin levels are associated with glucocorticoid acti...

ea0099ep2 | Diabetes, Obesity, Metabolism and Nutrition | ECE2024

Identification of two novel LMNA variants causing familial partial lipodystrophy

Pelosini Caterina , Magno Silvia , Ceccarini Giovanni , Paoli Melania , Menconi Francesca , Gilio Donatella , Palladino Lavinia , Rita Sessa Maria , Santini Ferruccio

The predominant subtype of familial partial lipodystrophy (FPLD) is a rare autosomal dominant disease occurring in Arginine 482 codon of LMNA gene (FPLD subtype 2, also known as Dunnigan-type lipodystrophy). FPLD may also occur in patients harboring mutations in different exons of LMNA. We herein describe two unrelated patients referred to our Center for the suspicion of partial lipodystrophy and carrying two novel heterozygous LMNA variants. The fir...

ea0063gp39 | Metabolic Syndrome and Hypoglycaemia | ECE2019

Generalized lipodystrophy associated with delayed neuro-somatic development and multiple dysmorphisms in a neonate with a compound heterozygous missense mutation in the SYNE2 gene

Pelosini Caterina , Ceccarini Giovanni , Aretini Paolo , Lorenzoni Francesca , Magno Silvia , Caligo Maria Adelaide , Sessa Maria Rita , Ferrari Federica , Ghirri Paolo , Santini Ferruccio

Generalized lipodystrophies are extremely rare diseases. Despite remarkable progress in identifying genes responsible for the most common forms of genetic lipodystrophies, the molecular basis of disease in some patients with distinctive phenotypes remains unclear. We herein describe the case of a male patient born from non-consanguineous parent affected by a syndrome characterized by generalized lipodystrophy, psycho-somatic growth retardation, cleft palate, macroglossia, righ...

ea0063p586 | Diabetes, Obesity and Metabolism 2 | ECE2019

Real-world experience of generalized and partial lipodystrophy patients enrolled in the metreleptin early access program

Cook Keziah , Stears Anna , Araujo-Vilar David , Santini Ferruccio , O'Rahilly Stephen , Ceccarini Giovanni , Tibrewala Shruti , Bradt Pamela , Vigouroux Corinne , Vatier Camille , Savage David B

Objective: To evaluate the real-world experience of patients with generalized (GL) and partial (PL) lipodystrophy initiating treatment with metreleptin as part of an early access program (EAP).Methods: A retrospective data collection was conducted from four countries for patients enrolled in the EAP. A descriptive analysis was performed on selected patient characteristics, baseline organ impairments and complications, and response to metreleptin therapy,...

ea0099ep12 | Diabetes, Obesity, Metabolism and Nutrition | ECE2024

A complex phenotype with partial lipodystrophy due to mutations in HIST1H1E and OTOGL genes

Bighetti Leonardo , Romanisio Martina , Mellone Simona , Vurchio Denise , Mollero Edoardo , Daffara Tommaso , Ceccarini Giovanni , Pelosini Caterina , Aimaretti Gianluca , Giordano Mara , Prodam Flavia

Here we report a case of an adult patient (44y/o) followed for type-2 diabetes since he was 15 years, hypercholesterolemia treated with PCSK9 inhibitors and hypertension. At physical examination he presented: progeroid features, prominent forehead, hypertelorism, short palpebral fissures, broad nasal bridge, baldness, and hypotricosis. He was also affected by hearing loss with a jarring voice and lost teeth in early age. He showed developmental delay and ID, mild atrial septal...

ea0081p352 | Diabetes, Obesity, Metabolism and Nutrition | ECE2022

The effects of an acute metreleptin injection on hepatic lipid metabolism in patients with lipodystrophy

Beghini Marianna , Metz Matthaeus , Wolf Peter , Bastian Magdalena , Hackl Martina , Baumgartner-Parzer Sabina , Kautzky-Willer Alexandra , Trauner Michael , Marculescu Rodrig , Krebs Michael , Harreiter Jurgen , Wabitsch Martin , von Schnurbein Julia , Brandt-Huenemann Stephanie , Stumvoll Michael , Miehle Konstanze , Santini Ferruccio , Ceccarini Giovanni , Magno Silvia , Pelosini Caterina , Krssak Martin , Pfleger Lorenz , Stangl Herbert , Furnsinn Clemens , Scherer Thomas

Objective: Treatment with metreleptin ameliorates hepatic steatosis in patients with lipodystrophy. The anti-steatotic effect of metreleptin is partially independent of its anorexic action, which suggests a direct effect of metreleptin on hepatic lipid metabolism. However, this mechanism is unknown. Based on previous findings in rodents, we hypothesized that metreleptin reduces hepatic lipid content by stimulating very-low density lipoprotein triglyceride (VLDL1-TG) secretion,...