Publications by authors named "L P Chorich"
Objective: To study the identification of rare genetic variants in the PCDH genetic family in a cohort of transgender women (TGW) and their potential role in gender identity.
Design: Exome sequencing and functional ontology analysis.
Setting: Outpatient gender health and reproductive endocrinology clinics.
The molecular basis of mullerian aplasia, also known as Mayer-Rokitansky-Kuster Hauser (MRKH) or congenital absence of the uterus and vagina, is largely unknown. We applied a multifaceted genetic approach to studying the pathogenesis of MRKH including exome sequencing of trios and duos, genome sequencing of families, qPCR, RT-PCR, and Sanger sequencing to detect intragenic deletions, insertions, splice variants, single nucleotide variants, and rearrangements in 132 persons with MRKH. We identified two heterozygous variants in ZNHIT3 localized to a commonly involved CNV region at chromosome 17q12 in two different families with MRKH.
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- Hypogonadotropic hypogonadism (HH) is a condition causing absence of puberty and infertility due to impaired hormone action, with genetic factors involved in about 40-50% of cases.
- A study involving 158 patients used exome sequencing to investigate the frequency of pathogenic genetic variants, finding a prevalence of 19% for monogenic variants and only 1.2% for digenic variants.
- The results suggest that the occurrence of these pathogenic variants in nHH/KS is lower than previously reported, providing a more accurate estimation by excluding variants of uncertain significance (VUS).
Article Synopsis
- The study aimed to determine if defects in the pituitary or ovaries contribute to subfertility in female Nsmf knockout mice, which serve as a model for a specific type of hypogonadotropic hypogonadism.
- Researchers analyzed hormone levels, gene expression in the brain and ovaries, and ovarian response to treatments like gonadotropin-releasing hormone (GnRH) stimulation and superovulation.
- Results indicated that while hypothalamic gene expression was altered in Nsmf KO mice, pituitary function remained normal; however, there were issues with superovulation and reduced oocyte production despite normal implantation rates.