Isolated Cryptorchidism: No Evidence for Involvement of Genes Underlying Idiopathic Hypogonadotropic Hypogonadism
| Autor: | Jorma Toppari, Kirsi Vaaralahti, Johanna Tommiska, Helena E. Virtanen, Heidi Oehlandt, Rosanna Koivu, Taneli Raivio, Eeva-Maria Laitinen |
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| Přispěvatelé: | University of Helsinki, Institute of Biomedicine/Physiology, Departments of Physiology and Pediatrics, University of Turku |
| Jazyk: | angličtina |
| Rok vydání: | 2011 |
| Předmět: |
Isolated hypogonadotropic hypogonadism
Male medicine.medical_specialty TACR3 Receptors Peptide IHH PROKR2 DNA Mutational Analysis Hypothalamic–pituitary–gonadal axis Unilateral cryptorchidism Biology Compound heterozygosity medicine.disease_cause Biochemistry Receptors G-Protein-Coupled Gastrointestinal Hormones PROK2 03 medical and health sciences Exon 0302 clinical medicine Endocrinology Internal medicine Tachykinins Cryptorchidism medicine GNRHR Humans [SDV.BBM]Life Sciences [q-bio]/Biochemistry Molecular Biology Receptor Fibroblast Growth Factor Type 1 Molecular Biology Genetic Association Studies Receptors Tachykinin 030304 developmental biology 0303 health sciences Mutation 030219 obstetrics & reproductive medicine Polymorphism Genetic Hypogonadism Neuropeptides Infant Newborn Infant medicine.disease Phenotype FGFR1 Case-Control Studies Receptors LHRH TAC3 |
| Zdroj: | Molecular and Cellular Endocrinology Molecular and Cellular Endocrinology, Elsevier, 2011, 341 (1-2), pp.35. ⟨10.1016/j.mce.2011.05.015⟩ |
| ISSN: | 0303-7207 |
| DOI: | 10.1016/j.mce.2011.05.015⟩ |
| Popis: | Mutations in FGFR1 , GNRHR , PROK2 , PROKR2 , TAC3 , or TACR3 underlie isolated hypogonadotropic hypogonadism (IHH) with clinically variable phenotypes, and, by causing incomplete intrauterine activation of the hypothalamic–pituitary–gonadal axis, may lead to cryptorchidism. To investigate the role of defects in these genes in the etiology of isolated cryptorchidism, we screened coding exons and exon–intron boundaries of these genes in 54 boys or men from 46 families with a history of cryptorchidism. Control subjects (200) included 120 males. None of the patients carried mutation(s) in FGFR1 , PROK2 , PROKR2 , TAC3 or TACR3 . Two of the 46 index subjects with unilateral cryptorchidism were heterozygous carriers of a single GNRHR mutation (Q106R or R262Q), also present in male controls with a similar frequency (3/120; p = 0.62). No homozygous or compound heterozygous GNRHR mutations were found. In conclusion, cryptorchidism is not commonly caused by defects in genes involved in IHH. |
| Databáze: | OpenAIRE |
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