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.

Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders caused by enzyme deficiencies required for cortisol biosynthesis in the adrenal cortex. The majority of CAH are due to the deficiency of the 21-hydroxylase enzyme, while 3ß-hydroxysteroid dehydrogenase type 2 deficiency accounts for less than five percent of all CAH cases. We report two Moroccan twins from a spontaneous triplet pregnancy. The 46,XY newborn exhibited a disorder of sexual differentiation (DSD) with hypo virilization, while the 46,XX newborn had normal female external genitalia. In the first week of life, they showed hyponatremia and primary adrenal insufficiency with a slight 17OHP elevation and increased DHEAS and renin levels. The aCGH-SNP analysis disclosed a 8.36 Mb long contiguous stretch of homozygosity (LCSH) on chromosome 1p13.2-p11.2 including the candidate HSD3B2 gene, a LCSH of 7.3 Mb on 14q31.1-q32.11, and a 7 Mb duplication on 10q22.3-q23.2. Clinical exome sequencing revealed the biallelic c.969T > G (p.Asn323Lys) HSD3B2, likely pathogenic, variant in both of the affected twins. This case emphasizes the importance of a prompt molecular diagnosis performed through the combination of aCGH and clinical exome, both for establishment of correct therapy and for follow-up, as the newborns also carry a genomic rearrangement with possible clinical implications.

High-Fidelity simulation-based program improves flow state scale in the perinatal team.

BACKGROUND: We aimed to evaluate the degree of realism and involvement, stress management and awareness of performance improvement in practitioners taking part in high fidelity simulation (HFS) training program for delivery room (DR) management, by means of a self-report test such as flow state scale (FSS). METHODS: This is an observational pretest-test study. Between March 2016 and May 2019, fourty-three practitioners (physicians, midwives, nurses) grouped in multidisciplinary teams were admitted to our training High Fidelity Simulation center. In a time-period of 1 month, practitioners attended two HFS courses (model 1, 2) focusing on DR management and resuscitation maneuvers. FSS test was administred at the end of M1 and M2 course, respectively. RESULTS: FSS scale items such as unambiguous feed-back, loss of self consciousness and loss of time reality, merging of action and awareness significantly improved (P < 0.05, for all) between M1 and M2. CONCLUSIONS: The present results showing the high level of practitioner involvement during DR management-based HFS courses support the usefulness of HFS as a trustworthy tool for improving the awareness of practitioner performances and feed-back. The data open the way to the usefulness of FSS as a trustworthy tool for the evaluation of the efficacy of training programs in a multidisciplinary team.