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The list of activating and inactivating mutations of the G-protein-coupled receptors with seven transmembrane domains involved in endocrine diseases is increasing rapidly. Two reports (1, 2) have recently added inactivating mutations of the gonadotropin-releasing hormone receptor (GnRHR) to the list. Hereditary hypogonadotropic hypogonadism (HH) is genetically heterogeneous, and so far only some forms of X-linked recessive inheritance have been explained. The well- known X-linked form of HH associated with anosmia is Kallmann's syndrome due to mutations of the KALIG-1 gene located to chromosome Xp22.3 (3, 4). Mutation of the chromosome Xp21-located gene of the transcription factor DAX (DSS-AHC critical region of the X chromo- some, gene 1) causes congenital adrenal hypoplasia and HH (5). Nevertheless, these two genetic defects do not explain all the cases of familial HH and this disease is not always linked to the X chromosome. Therefore, it was tempting to search for other candidates. Since gonadotropin-releasing hormone (GnRH) plays a major role in the central control of the gonadotropic axis, it was a possible candidate. Indeed mutation of the GnRH gene was first reported in the hypogonadal mouse more than 10 years ago (6), but a similar mutation has never been reported in humans (7).

Gonadotropin-releasing hormone receptor gene mutation: a new cause of hereditary hypogonadism and another mutated G-protein-coupled receptor