Pseudoacromegaly is a extremely rare condition previously described and characterized by acromegaloid changes, tissue overgrowth, without elevations in insulin-like growth factor or growth hormone as seen in Acromegaly. We present the case of a young female seen initially with acromegaloid features and a pituitary microadenoma. After work-up the patient was diagnosed as insulin-mediated pseudoacromegaly. Only a few cases of pseudoacromegaly has been reported and should always be considered when evaluating patients for acromegaloid features with negative biochemical and hormonal levels.
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Ann Endocrinol (Paris)
June 2024
INSERM UMRS_938, Centre de recherche Saint-Antoine, Institut hospitalo-universitaire de cardiométabolisme et nutrition (ICAN), Sorbonne université, Paris, France; Service d'endocrinologie, diabétologie, nutrition, Centre de compétence PRISIS, CHU de la Milétrie, Poitiers, France; Inserm, ECEVE UMR 1123, université Paris-Cité, Paris, France.
Clin Endocrinol (Oxf)
June 2024
Centre for Endocrinology, William Harvey Research Institute, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, London, UK.
Orphanet J Rare Dis
March 2024
Genetic and Precision Medicine Department, King Abdullah Specialized Children Hospital, King Abdulaziz Medical City, Ministry of National Guard Health Affairs (MNGHA), Riyadh, Saudi Arabia.
Background: Congenital generalized lipodystrophy (CGL) is a rare inherited disease characterized by a near-total absence of adipose tissue and is associated with organ system abnormalities and severe metabolic complications. Here, we have analyzed the disease characteristics of the largest CGL cohort from the Middle East and North Africa (MENA) who have not received lipodystrophy-specific treatment.
Methods: CGL was diagnosed clinically by treating physicians through physical assessment and supported by genetic analysis, fat loss patterns, family history, and the presence of parental consanguinity.
Case Rep Endocrinol
November 2023
Department of Endocrinology and Diabetology, University Hospital Centre, Rijeka, Croatia.
Acromegaly and gigantism are hormonal disorders which develop as a consequence of chronic growth hormone hypersecretion. The prefix pseudo- is used to describe a certain clinical condition without a clearly proven characteristic of pathophysiological mechanism and basic biochemical features; pseudoacromegaly or acromegaloidism match the definition from above. In this case reports, we will try to provide a concise overview of diagnostic evaluation of acromegaloid physical appearance, while discussing two cases of patients who have similar clinical acromegaloid features as the first sign of the disease but have completely different etiologic backgrounds of their acromegalic appearance.
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February 2023
Brazilian Group for the Study of Inherited and Acquired Lipodystrophies (BRAZLIPO), Clinical Research Unit, Walter Cantidio University Hospital, Federal University of Ceará/EBSERH, Rua Coronel Nunes de Melo 1142, Fortaleza, Ceara, 60416-000, Brazil.
Congenital Generalized Lipodystrophy (CGL) is a rare autosomal recessive disease characterized by near complete absence of functional adipose tissue from birth. CGL diagnosis can be based on clinical data including acromegaloid features, acanthosis nigricans, reduction of total body fat, muscular hypertrophy, and protrusion of the umbilical scar. The identification and knowledge of CGL by the health care professionals is crucial once it is associated with severe and precocious cardiometabolic complications and poor outcome.
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