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Metreleptin Treatment in a Boy with Congenital Generalized Lipodystrophy Due to Homozygous c.465_468delGACT (p.T156Rfs*8) Mutation in the BSCL2 Gene: Results From the First Year

research Metreleptin Treatment in a Boy with Congenital Generalized Lipodystrophy Due to Homozygous c.465_468delGACT (p.T156Rfs*8) Mutation in the BSCL2 Gene: Results From the First Year

1 citations , June 2022 in “JCRPE”

Metreleptin treatment significantly improved metabolic health in a boy with congenital generalized lipodystrophy.

research Berardinelli–Seip Syndrome

February 2026 in “Endokrynologia Polska”

Early diagnosis and treatment are crucial for managing Berardinelli–Seip syndrome.

Progressive Metabolic Dysfunction-Associated Steatotic Liver Disease from a Young Age Due to a Rare Genetic Disorder, Familial Partial Lipodystrophy: A Case Report and Review of the Literature

research Progressive Metabolic Dysfunction-Associated Steatotic Liver Disease from a Young Age Due to a Rare Genetic Disorder, Familial Partial Lipodystrophy: A Case Report and Review of the Literature

December 2024 in “Livers”

Recognizing rare causes of MASLD is crucial for effective treatment and preventing complications.

research How to Diagnose a Lipodystrophy Syndrome

53 citations , June 2012 in “Annales d'Endocrinologie”

The document concludes that recognizing and properly diagnosing lipodystrophy syndromes is crucial for effective management and treatment.

research Where Have the Periods Gone? The Evaluation and Management of Functional Hypothalamic Amenorrhea

18 citations , January 2020 in “Journal of Clinical Research in Pediatric Endocrinology”

The document concludes that Functional Hypothalamic Amenorrhea should be carefully diagnosed and managed to prevent health complications, using lifestyle changes and specific medications.

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