Homozygous Leptin Receptor Mutation Due to Uniparental Disomy of Chromosome 1: Response to Bariatric Surgery | Zendy

Johanne Le Beyec | Zendy; Christine CugnetAnceau | Zendy; Dominique Pépin | Zendy; Rohia Alili | Zendy; Aurélie Cotillard | Zendy; JeanMarc Lacorte | Zendy; Arnaud Basdevant | Zendy; Martine Laville | Zendy; Karine Clément | Zendy

AI Assistant Blog Pricing

Home ZAIA Blog

Open Access

Homozygous Leptin Receptor Mutation Due to Uniparental Disomy of Chromosome 1: Response to Bariatric Surgery

Author(s) -

Johanne Le Beyec,

Christine CugnetAnceau,

Dominique Pépin,

Rohia Alili,

Aurélie Cotillard,

JeanMarc Lacorte,

Arnaud Basdevant,

Martine Laville,

Karine Clément

Publication year - 2012

Publication title -

the journal of clinical endocrinology and metabolism

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 2.206

H-Index - 353

eISSN - 1945-7197

pISSN - 0021-972X

DOI - 10.1210/jc.2012-2779

Subject(s) - leptin receptor , medicine , endocrinology , obesity , uniparental disomy , leptin , hypogonadotropic hypogonadism , proband , mutation , genetics , chromosome , biology , hormone , gene , karyotype

Severe early-onset obesity with major hyperphagia associated with hypogonadotropic hypogonadism is recognized as the main clinical presentation of leptin (LEP) or LEP receptor (LEPR) gene complete deficiency. In a few reported cases, homozygous mutations have been found in patients from consanguineous families. Care of LEPR-deficient patients is complicated because they cannot benefit from LEP treatment. Furthermore, gastric surgery may not be recommended in such genetic hypothalamic obesity.

The content you want is available to Zendy users.

Already have an account? Click here to sign in.

Having issues? You can contact us here

Accelerating Research