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Whole exome sequencing reveals ABCD1 variant as a potential contributor to male infertility.
Mol Biol Rep
January 2025
Laboratory of Genomics and Human Genetics, Institut Pasteur du Maroc, Casablanca, Morocco.
Background: Male infertility (MI) is a polygenic condition mainly induced by spermatogenic failure/arrest or systemic disease with a large clinical spectrum. Lately, genetic sequencing allowed the identification of several variants implicated in both aforesaid situations.
Methods And Results: In this case study, we performed whole exome sequencing (WES) on the genomic DNA of a 37-year-old Moroccan man with Non-Obstructive Azoospermia.
Ambiguous Genitalia Due to 3β-Hydroxysteroid Dehydrogenase Type 2 Deficiency: Clinical, Genetic, and Functional Characterization of Two Novel Variants.
JCEM Case Rep
February 2025
Pediatric Endocrinology, Diabetology and Metabolism, Bern University Hospital, 3010 Bern, Switzerland.
3β-Hydroxysteroid dehydrogenase 2 deficiency (3βHSD2D) is a rare form of congenital adrenal hyperplasia (CAH) with variable clinical presentation. We describe a 46, XY child with ambiguous genitalia and CAH without apparent adrenal insufficiency due to 2 novel heterozygous variants in the gene (c.779C > T/p.
View Article and Find Full Text PDFSleep and cardiorespiratory function assessed by a smart bed over 10 weeks post COVID-19 infection.
Sci Rep
January 2025
Department of Medicine, University of Chicago, Chicago, IL, USA.
Inadequate information exists regarding physiological changes post-COVID-19 infection. We used smart beds to record biometric data following COVID-19 infection in nonhospitalized patients. Recordings of daily biometric signals over 14 weeks in 59 COVID-positive participants' homes in 2020 were compared with the same participants' data from 2019.
View Article and Find Full Text PDFLife With Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency: Challenges and Burdens.
J Clin Endocrinol Metab
January 2025
Division of Pediatric Endocrinology, Children's Hospital of Richmond, Virginia Commonwealth University, Richmond, VA 23298, USA.
Context: Congenital adrenal hyperplasia (CAH) is an autosomal recessive genetic condition requiring daily medication(s) and attention to details. In addition to daily medications and regular visits with healthcare providers, families may live with perpetual angst regarding unpredictable occurrences of acute adrenal insufficiency. Despite numerous barriers and challenges imposed by this chronic condition, caregivers and healthcare professionals can empower our patients to achieve a good quality of life.
View Article and Find Full Text PDFBackground: An estimated 17% of all couples worldwide are involuntarily childless (infertile). The clinically identifiable causes of infertility can be found in the male or female partner or in both. The molecular pathophysiology of infertility still remains unclear in many cases but is increasingly being revealed by genetic analyses.
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