Khalil Khoury

TL;DR: The frequency of congenital hypothyroidism is about one in 7,000 births and the immunoassay is effective in detecting thyroid hormone abnormalities with an acceptable percentage of false positive measurements; no false negative results have occurred.

TL;DR: It is concluded that a second sample for congenital hypothyroidism screening at 14 d of age should be considered for all same-sex twins, and thyroid dysgenesis generally results from epigenetic phenomena, early somatic mutations, or postzygotic stochastic events.

TL;DR: The first cases of pregnancy in a LCAH female patient bearing the L275P mutation in the StAR gene are described, showing that despite the dysfunctional StAR, pregnancy is possible under the proper therapeutic strategy.

TL;DR: Understanding the molecular structure and function of STARD1 in all steroidogenic tissues is the key for comprehending the heterogeneous clinical manifestations of LCAH, and the development of an appropriate strategy for the induction of ovulation and protecting pregnancies in this disease.

TL;DR: In transfection analysis in COS‐1 cells, the mutant L275P was well‐expressed, but its StAR activity was 87% impaired, consistent with the moderate severity of clinical onset of manifestations.