Congenital leptin deficiency: diagnosis and effects of leptin replacement therapy.
Arq Bras Endocrinol Metabol
; 54(8): 690-7, 2010 Nov.
Article
em En
| MEDLINE
| ID: mdl-21340154
To describe our 10-year experience in treating leptin-deficient humans. Three adults and one boy presented with childhood-onset morbid obesity, hypogonadism and family history of obesity and early death. Serum leptin was inappropriately low. A recessive C105T leptin gene mutation was identified. Metabolic and endocrine assessments were conducted, before and while on and off leptin. The adults' body mass index decreased from 51.2 ± 2.5 to 29.5 ± 2.8 kg/m(2). Serum lipids normalized, insulin resistance decreased, and one of the initially diabetic females became normoglycemic. Hypogonadotropic hypogonadism was reversed, and other changes were observed in the adrenal, sympathetic, somatotropic and thyroid functions. Leptin replacement therapy reverses endocrine and metabolic alterations associated with leptin deficiency. Some of these results may be extrapolated to other diseases.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Fenótipo
/
Terapia de Reposição Hormonal
/
Leptina
Tipo de estudo:
Diagnostic_studies
/
Prognostic_studies
Limite:
Adult
/
Child
/
Female
/
Humans
/
Male
Idioma:
En
Revista:
Arq Bras Endocrinol Metabol
Ano de publicação:
2010
Tipo de documento:
Article
País de afiliação:
Austrália
País de publicação:
Brasil