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Table 1 Clinical characteristics of patients with a clinical diagnosis of FPL syndrome

From: Evaluation of the hypothalamic–pituitary–adrenal axis in a case series of familial partial lipodystrophy

  P1 P2 P3 P4 P5 P6
Age (years) 33 20 42 17 41 24
Sex F M F F F F
Reason for medical consultation Hirsutism Family history Hirsutism oligomenorrhea Hirsutism Cushing syndrome investigation Family history
Age of TA abnormality (years) 12 8 25 Not defined 20 23
Acanthosis nigricans + + + + + +
Clinical lipoatrophy Four limbs, gluteal area Lower limbs Four limbs, gluteal area Slight, lower limbs Four limbs, gluteal area Lower limbs
Fat deposition Face, neck Face, neck Face, neck, trunk Face, neck, abdomen Face, neck, trunk Face, neck, trunk
Age at T2D diagnosis (years) Glucose intolerance 36 34
Previous comorbidities Dyslipidemia HBP, dyslipidemia HBP, dyslipidemia myocardial infarction (36 y)
Anti-diabetic medications No No Metformin, gliclazide No Metformin, gliclazide No
Other current medications No No Enalapril, fibrate No Enalapril, HCTZ, statin, ezetimibe, fibrate No
Family history phenotype Brother
Nephew (P2)
Father
Aunt (P1)
Niece Grandmother
Aunt
Father
Daughter (P6)
Grandfather
Mother (P5)
  1. TA adipose tissue, T2D type 2 diabetes, HBP high blood pressure, HCTZ hydrochlorothiazide