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https://www.um.edu.mt/library/oar/handle/123456789/145948| Title: | Idiopathic hypogonadotropic hypogonadism in the Maltese island population : a spectrum of phenotypes and genotypes |
| Authors: | Axiak, C. Pleven, Adrian Borg Carbott, Francesca Attard, Ritienne Cassar, Karen Gruppetta, Mark Vassallo, Josanne Bezzina Wettinger, Stephanie Farrugia, Rosienne |
| Keywords: | Hypogonadism -- Malta Sexual disorders -- Malta Luteinizing hormone releasing hormone Phenotype Hypothalamic hormones |
| Issue Date: | 2021 |
| Publisher: | American Society of Human Genetics |
| Citation: | Axiak, C., Pleven, A., Borg Carbott, F., Attard, R., Cassar, K., Gruppetta, M.,... Farrugia, R. (2021, October). Idiopathic hypogonadotropic hypogonadism in the Maltese island population : a spectrum of phenotypes and genotypes. American Society of Human Genetics Meeting, Virtual Event. 788. |
| Abstract: | Idiopathic Hypogonadotropic Hypogonadism (IHH) is a rare, genetically heterogeneous infertility disorder characterized by absent or incomplete sexual maturation by age 18. This is due to a deficiency or absence of either pulsatile hypothalamic secretion of gonadotropin-releasing hormone (GnRH) and/or gonadotropins from the anterior pituitary in the presence of low serum sex steroids. IHH diagnosis is only conclusive if there are no other abnormalities to hypothalamic and pituitary morphology and function. |
| URI: | https://www.um.edu.mt/library/oar/handle/123456789/145948 |
| Appears in Collections: | Scholarly Works - FacHScABS |
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| File | Description | Size | Format | |
|---|---|---|---|---|
| Idiopathic_hypogonadotropic_hypogonadism_in_the_Maltese_island_population_a_spectrum_of_phenotypes_and_genotypes_2021.pdf | 608.33 kB | Adobe PDF | View/Open |
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