Mabel Yau

TL;DR: The fetal CAH status was correctly deduced by targeted MPS of DNA in maternal plasma, as early as 5 weeks 6 days of gestation, representing a generic approach for noninvasive prenatal testing for an array of autosomal recessive disorders.

TL;DR: It is found that mutations that allow the formation of an inactive dimer, alter substrate/coenzyme binding, or impair structural stability of HSD11B2 yield severe AME, while mutations that cause an indirect disruption of substrate binding or mildly alter intramolecular interactions result in type 2 AME.

TL;DR: Treatment for classic 21-OHD CAH includes glucocorticoid replacementtherapy, which needs to be increased during periods of stress, and treatment for the salt-wasting form requires treatment with 9α-fludrohydrocortisone and often sodiumchloride.

TL;DR: Molecular genetic analysis provides accurate diagnosis of Steroid 17β-hydroxysteroid dehydrogenase III deficiency in patients with 46,XY disorders of sexual differentiation and shows decreased D4/T ratio after hCG stimulation.

TL;DR: It is revealed that male gender assignment to CAH patients with a 46, XX karyotype may have a successful outcome providing there is strong parental support and expert endocrine care.