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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