A novel de novo frameshift mutation in NR0B1 and low prenatal estriol in adrenal hypoplasia congenita
ANNALS OF THE NEW YORK ACADEMY OF SCIENCES
Authors: Khattab, Ahmed; Nelson-Williams, Carol; Cabreza, Vivienne; Macdonald, Anne; Loring, Erin; Saland, Jeffrey; New, Maria I.
Abstract
Mutations in the gene NR0B1 have been associated with several clinical phenotypes of X-linked adrenal hypoplasia congenita (AHC). The degree and onset of adrenal insufficiency and involvement of hypogonadotropic hypogonadism is variable and may not be concordant with the identified mutation. We review a patient with AHC in which prenatal estriol levels were low, presenting with early-onset mineralocorticoid deficiency in the newborn period followed by glucocorticoid deficiency 2 years later. The reported child is hemizygous for a novel mutation that is deemed de novo in the ligand-binding site of the protein (DAX1) expressed by NR0B1. The identified frameshift mutation results in a T407N/fs protein change. Low prenatal estriol levels may represent a sensitive marker of potentially fatal disorders associated with adrenal insufficiency and should be utilized more frequently. Additionally, accurate reporting of mutations in NR0B1 and the associated phenotype are important to eventually establish a genotype-phenotype correlation that may help anticipate guidance in AHC.
Joint recommendations for the diagnosis and treatment of vulvo-vaginal atrophy in women in the peri- and post-menopausal phases from the Societa Italiana per la Menopausa (SIM) and the Societa Italiana della Terza Eta (SIGiTE)
MINERVA GINECOLOGICA
Authors: Cagnacci, Angelo; Gallo, Mario; Gambacciani, Marco; Lello, Stefano; Gambacciani, M.; Volpe, A.; Cagnacci, A.; Lanzone, A.; Di Carlo, C.; De Leo, V; Biglia, N.; Caruso, S.; Cicinelli, E.; Farris, M.; Gambera, A.; Guaschino, S.; Paoletti, A. M.; Russo, N.; Vicariotto, F.; Villa, P.; Gallo, M.; Nocera, F.; Maffei, S.; Pandolfo, M.; Lello, S.; Ambroggio, S.; Grassi, G.; De Seta, F.; Stoniati, M.; Gullo, D.; Becorpi, A.; Cancellieri, F.; Fiorillo, F.; Del Pup, L.; Mapell, C.; Ottanelli, S.
Abstract
Herein, joint recommendations for diagnosis and treatment of vulvo-vaginal atrophy (VVA) in women in the peri- and post-menopausal phases from the Societa Italians per la Menopausa (SIM) and the Societa Italiana della Terza Eta (SIGiTE) are presented. The recommendations are aimed at all healthcare personnel caring for women in the menopausal transition or postmenopausal phase, and are also intended to raise awareness of VVA. Recent data clearly indicate VVA is a highly prevalent condition among postmenopausal women, and that the vast majority of women with VVA are not adequately treated. In reality, diagnosis of VVA is simple and largely clinical. Many types of treatments are available for VVA, ranging from preventive education measures to local non-hormonal therapies, local agents that modulate hormonal receptors and systemic as well as laser therapy and radiofrequency. Regardless of the therapeutic approach adopted, greater communication between the physician and the woman with VVA should be actively encouraged. This is also in light of the difficulty of talking about the VVA and related disorders. Greater communication also encourages adequate therapy and thus minimizes the impact of VVA on the quality of life of the woman and her partner.