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| Differences in sex development v4.14 | TACR3 |
Rabina Akhtar gene: TACR3 was added gene: TACR3 was added to Differences in sex development. Sources: Research,Literature Mode of inheritance for gene: TACR3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TACR3 were set to PMID: 22031817; 20332248; 40101754 Phenotypes for gene: TACR3 were set to HYPOGONADOTROPIC HYPOGONADISM 11 WITH OR WITHOUT ANOSMIA; HH11 (OMIM: 614840) Penetrance for gene: TACR3 were set to Complete Review for gene: TACR3 was set to GREEN gene: TACR3 was marked as current diagnostic Added comment: PMID:22031817 reports a 19 year old patient with small testes, micropenis and bilateral cryptorchidism, compound heterozygous TACR3 variant (c.824G>A and c.1003C>T) PMID: 20332248 reports proband 3 of the study with micropenis and was found to be homozygous for TACR3 c.824G>A p.Trp275* variant PMID: 40101754 performed a systematic review of the literature (245 publications) to extract clinical data and the association with gene variants from 775 males with delayed or arrested puberty due to CHH. The characteristics of the genitalia in patients with causal variants in the TACR3 was summarized in this paper. A total of 17 disease causing TACR3 variants were identified. Of those, 3 patients had cryptorchidism, 10 patients had micropenis, 2 patients had microorchidism, 3 patients had cryptorchidism and micropenis, and 2 patients had micropenis and microorchidism. Additional male patient identified at WMGL with cryptorchidism and micropenis with a homozygous likely pathogenic TACR3 c.1057C>T p.(Pro353Ser) Sources: Research, Literature |
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