Lauber-Biason
Fakultäten » Medizinische Fakultät » Kinderspital Zürich: Medizinische Klinik » Endokrinologie/Diabetologie, Abteilung » Prof. Dr. Eugen Schönle » Lauber-Biason
Completed research project
| Title / Titel | Molecular Medicine of Defects of Sexual Differentiation | ||||
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| Abstract (PDF, 14 KB) | |||||
| Summary / Zusammenfassung | The identification of the molecular basis of defects of sexual differentiation in humans are important not only to establish a precise diagnosis, but also to gain insight in the mechanisms regulating the development and maintenance of reproductive organs in humans. For these reasons we established molecular procedures to clarify the molecular basis of male psudoherm-aphroditism due to putative LH beta deficiency (OMIM 152780); LH receptor defects (OMIM 152790) leading to male Leydig cell hypoplasia (loss-of-function) or to male-limited precocious puberty (gain-of function) ; Androgen insensitivity syndrome (AIS, OMIM *300068) due to mutations in the androgen receptor (AR) gene (OMIM *313700); defects in the nuclear receptor SF1 as basis for male pseudohermaphroditism and congenital adrenal insufficiency (OMIM *184757); WNT4 associated with Mullerian duct regression and v.Virilization. These analysis together with those mentioned in the project entitled “ Determinants of endocrine development and function: focus on the pituitary gland and steroidogenic tissues” (dealing with defects in pituitary development and deficiencies in steroidogenic enzymes) provide a wide spectrum of tools to precisely diagnose defects of sexual differentiation in children | ||||
| Publications / Publikationen | Biason-Lauber A, Schoenle EJ (2000) Apparently normal ovarian differentiation in a prepubertal girl with transcriptionally inactive steroidogenic factor-1 (NR5A1/SF-1) and adrenocortical insufficiency. Am J Hum Genet 67:1563-1568Rosa S, Biason-Lauber A, Mongan NP, Navratil F, Schoenle EJ (2002) Complete androgen insensitivity syndrome caused by a novel mutation in the ligand binding domain of the androgen receptor: functional characterization. J Clin Endocrinol Metab 87: 4378-4382Biason-Lauber, A., Konrad, D., Navratil, F., Schoenle E.J.: A Mutation in WNT4 is Associated with Mullerian Duct Regression and Virilization in a 46 XX Woman. The New England J Med 2004; 351: 792-798 | ||||
| Keywords / Suchbegriffe | LH Receptor LH beta Androgen Receptor SF1 Sexual differentiation; molecular diagnosis | ||||
| Project leadership and contacts / Projektleitung und Kontakte |
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| Funding source(s) / Unterstützt durch |
SNF (Personen- und Projektförderung) |
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| Duration of Project / Projektdauer | Apr 2001 to Mar 2005 |