Publications by authors named "L Loridan"

Objective: Deficit of the testosterone converting enzyme 17-beta-hydroxysteroid dehydrogenase (17beta-HSD) has been shown to be responsible for male pseudohermaphroditism (MPH). We analysed the gene encoding 17beta-HSD type 3 (17beta-HSD3) in a patient with MPH.

Methods: We studied a 46, XY new-born diagnosed as having MPH.

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The Y chromosome gene SRY plays an important role in normal male sexual development and is thought to be the testis-determining factor. We describe a familial nonsense mutation in SRY, shared by two XY sisters with complete gonadal dysgenesis and, in a mosaic manner, by their father. This mutation, consisting of a C to T transition in position 1 of codon 97 of SRY, results in a truncated peptide with an incomplete DNA-binding domain.

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Objective: The aim of this study was the endocrinological, enzymatic, and genetic evaluation of a family with a complex syndrome associating hypogonadotrophic hypogonadism with hyposmia, X-linked ichthyosis and renal malformation.

Design: Hypothalamic-pituitary-testicular function, olfaction, steroid sulphatase activity, and morphological renal studies were assessed. DNA molecular analyses were carried out in all the patients.

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Acute intravenous (i.v.) dexamethasone administration has been described recently as a new test for the diagnosis of growth hormone (GH) deficiency.

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