Co-Occurrence of a Pathogenic HSD3B2 Variant and a Duplication on 10q22.3-q23.2 Detected in Newborn Twins with Salt-Wasting Congenital Adrenal Hyperplasia

Mellone, Simona; Bertelli, Enrica; Roviglione, Barbara; Vurchio, Denise; Ronzani, Sara; Secco, Andrea; Felici, Enrico; Strozzi, Maria Chiara; Schena, Federico; Giordano, Mara

doi:10.3390/genes13122190

Cited by 2 publications

(1 citation statement)

References 28 publications

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“… 41 Another report involves salt-wasting CAH in twins (Moroccan population) with pathogenic HSD3B2 variant [biallelic c.969T > G (p.Asn323Lys)] concomitant with duplication on 10q22.3-q23.2. 42 A case of lipoid CAH ( StAR mutations) was reported: a child with male external genitalia harboring heterozygous mutation c.772C>T/c.562C>T (of note, a total of previous 47 cases with non-classic lipoid CAH have been reported according to Lu et al). 43 Additionally, 3 novel pathogenic variants of CYP11A1 in Indian patients with P450 side-chain cleavage deficiency and AD were reported in 2022.…”

Section: Resultsmentioning

confidence: 99%

Addison’s Disease: Diagnosis and Management Strategies

Cârșote¹,

Nistor²

2023

IJGM

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We aim to overview Addison’s disease (AD) with regard to current diagnosis and management. This is a narrative review of full-length articles published in English between January 2022 and December 2022 (including online ahead of print versions) in PubMed-indexed journals. We included original studies in living humans regardless of the level of statistical significance starting from the key search terms “Addison’s disease” or “primary adrenal insufficiency” in title or abstract. We excluded articles with secondary adrenal insufficiency. Briefly, 199 and 355 papers, respectively were identified; we manually checked each of them, excluded the duplicates, and then selected 129 based on their clinical relevance in order to address our 1-year analysis. We organized the data in different subsections covering all published aspects on the subject of AD. To our knowledge, this is the largest AD retrospective from 2022 on published data. A massive role of genetic diagnosis especially in pediatric cases is highlighted; the importance of both pediatric and adult awareness remains since unusual presentations continue to be described. COVID-19 infection is a strong player amid this third year of pandemic although we still not do have large cohorts in this particular matter as seen, for instance, in thyroid anomalies. In our opinion, the most important topic for research is immune checkpoint inhibitors, which cause a large panel of endocrine side effects, AD being one of them.

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Section: Resultsmentioning

confidence: 99%

Addison’s Disease: Diagnosis and Management Strategies

Cârșote¹,

Nistor²

2023

IJGM

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Advancing precision care in pregnancy through an actionable fetal findings list

Cohen,

Duyzend,

Adelson

et al. 2024

Preprint

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The use of genomic sequencing (GS) for prenatal diagnosis of fetuses with sonographic abnormalities has grown tremendously over the past decade. Fetal GS also offers an opportunity to identify incidental genomic variants that are unrelated to the fetal phenotype, but may be relevant to fetal and newborn health. There are currently no guidelines for reporting incidental findings from fetal GS. In the United States, GS for adults and children is recommended to include a list of "secondary findings" genes (ACMG SF v3.2) that are associated with disorders for which surveillance or treatment can reduce morbidity and mortality. The genes on ACMG SF v3.2 predominantly cause adult-onset disorders. Importantly, many genetic disorders with fetal and infantile onset are actionable as well. A proposed solution is to create a "fetal actionable findings list," which can be offered to pregnant patients undergoing fetal GS or eventually, as a standalone cell-free fetal DNA screening test. In this integrative review, we propose criteria for an actionable fetal findings list, then identify genetic disorders with clinically available or emerging fetal therapies, and those for which clinical detection in the first week of life might lead to improved outcomes. Finally, we synthesize the potential benefits, limitations, and risks of an actionable fetal findings list.

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Co-Occurrence of a Pathogenic HSD3B2 Variant and a Duplication on 10q22.3-q23.2 Detected in Newborn Twins with Salt-Wasting Congenital Adrenal Hyperplasia

Cited by 2 publications

References 28 publications

Addison’s Disease: Diagnosis and Management Strategies

Addison’s Disease: Diagnosis and Management Strategies

Advancing precision care in pregnancy through an actionable fetal findings list

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