Mutations activantes des récepteurs des gonadotrophines
| Autor: | Paolo Beck-Peccoz, S. Borgato, Roberto Romoli, C Asteria, Luca Persani |
|---|---|
| Rok vydání: | 1998 |
| Předmět: |
endocrine system
medicine.medical_specialty Mutation medicine.drug_class luteinizing hormone/choriogonadotropin receptor Biology medicine.disease medicine.disease_cause Follicle-stimulating hormone Endocrinology Internal medicine Pediatrics Perinatology and Child Health medicine Precocious puberty Gonadotropin Follicle-stimulating hormone receptor Receptor Luteinizing hormone hormones hormone substitutes and hormone antagonists |
| Zdroj: | Archives de Pédiatrie. 5:S380-S384 |
| ISSN: | 0929-693X |
| DOI: | 10.1016/s0929-693x(99)80195-x |
| Popis: | The different types of activating mutations of LH and FSH receptors genes are described. They result in a constitutive permanent activation of the LH or FSH function responsible for functional disorders which is also observed in some ovarian tumours. Two types of functional disorders have been reported: male precocious puberty through activating mutation of the LH receptor, male fertility in the absence of FSH through activating mutation of the FSH receptor. Activating mutations of the FSH receptor observed in certain ovarian tumours result in hypersecretion of oestrogens. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
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