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Kallmann Syndrome: Functional Analysis of a Missense Variant Shows Aberrant RNA Splicing.
Int J Mol Sci
November 2024
CICS-UBI, Health Sciences Research Centre, University of Beira Interior, 6200-506 Covilhã, Portugal.
Kallmann syndrome is a rare disorder characterized by hypogonadotropic hypogonadism and an impaired sense of smell (anosmia or hyposmia) caused by congenital defects in the development of the gonadotropin-releasing hormone (GnRH) and olfactory neurons. Mutations in several genes have been associated with Kallmann syndrome. However, genetic testing of this disorder often reveals variants of uncertain significance (VUS) that remain uninterpreted without experimental validation.
View Article and Find Full Text PDFCase report: Novel SIN3A loss-of-function variant as causative for hypogonadotropic hypogonadism in Witteveen-Kolk syndrome.
Front Genet
March 2024
Centro de Investigaciones Endocrinológicas "Dr. César Bergadá" (CEDIE), CONICET-FEI-División de Endocrinología, Hospital de Niños Ricardo Gutiérrez, Buenos Aires, Argentina.
Pubertal delay can be due to hypogonadotropic hypogonadism (HH), which may occur in association with anosmia or hyposmia and is known as Kallmann syndrome (OMIM #308700). Recently, hypogonadotropic hypogonadism has been suggested to overlap with Witteveen-Kolk syndrome (WITKOS, OMIM #613406) associated with 15q24 microdeletions encompassing . Whether hypogonadotropic hypogonadism is due to haploinsufficiency of or any of the other eight genes present in 15q24 is not known.
View Article and Find Full Text PDFMutation spectrum and frequency of copy number variations of the ANOS1 gene in patients with Kallmann syndrome or normosmic isolated hypogonadotropic hypogonadism.
Endocr Connect
May 2023
Department of Pediatrics, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea.
Objective: This study was performed to investigate the molecular characteristics and frequency of copy number variations (CNVs) of ANOS1 in patients with Kallmann syndrome (KS) or normosmic isolated hypogonadotropic hypogonadism (nIHH) using multiplex ligation-dependent probe amplification (MLPA) analysis and sequencing.
Methods: Among 45 patients from 43 independent families, Sanger sequencing, next-generation sequencing (NGS), or microarray was performed in 24 patients from 23 families, and MLPA was performed in 19 patients who did not show rare sequence variants (n = 18) or ANOS1 amplification by PCR (n = 1).
Results: Seven patients (four patients with KS, one patient with nIHH, one prepubertal boy with anosmia, and one newborn patient) from six families (6/43, 14%) harbored molecular defects in ANOS1 including a nonsense mutation (c.
Reversible hypogonadotropic hypogonadism in men with the fertile eunuch/Pasqualini syndrome: A single-center natural history study.
Front Endocrinol (Lausanne)
November 2022
Massachusetts General Hospital - Harvard Center for Reproductive Medicine, Massachusetts General Hospital, Boston, MA, United States.
Article Synopsis
- Congenital hypogonadotropic hypogonadism (HH) is a genetic disorder that affects puberty and fertility, with 10-15% of cases showing potential for reversal.
- A study of 240 men categorized three groups based on puberty status: fertile eunuchs (FE), absent puberty, and partial puberty; the FE group showed no history of micropenis and had distinctive hormonal profiles.
- The FE group demonstrated higher levels of gonadotropins and a significant rate of spontaneous reversal, suggesting they experience milder neuroendocrine defects compared to other HH types, highlighting the FE variant as a potential predictor for reversibility in HH.
Reversible Kallmann Syndrome: Rare Yet Real.
Indian J Endocrinol Metab
January 2019
Department of Endocrinology and Diabetes, Christian Medical College, Vellore, Tamil Nadu, India.
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