8 documents found, page 1 of 1

Partial androgen insensitivity syndrome due to somatic mosaicism of the androge...

Low estrogen doses normalize testosterone and estradiol levels to the female ra...

OBJECTIVE: The ideal dosage of cross-sex hormones remains unknown. The aim of this study was to evaluate the luteinizing hormone, follicle-stimulating hormone, testosterone, estradiol and prolactin levels after low-dose estrogen therapy with or without cyproterone acetate in transgender women. METHODS: The serum hormone and biochemical profiles of 51 transgender women were evaluated before gonadectomy. Hormone ...

Mutation analysis of NANOS3 in Brazilian women with primary ovarian failure

OBJECTIVES: Primary ovarian failure is a rare disorder, and approximately 90% of cases are of unknown etiology. The aim of this study was to search for mutations in NANOS3, a gene that was recently related to the etiology of primary ovarian failure, in a group of Brazilian women. METHODS: We screened for NANOS3 DNA variants in 30 consecutive women who were previously diagnosed with primary ovarian failure, of u...

Long-Term Followup of a Large Cohort of Patients with Ovotesticular Disorder of...

Absence of inactivating mutations and deletions in the DMRT1 and FGF9 genes in ...

A novel WT1 heterozygous nonsense mutation (p.K248X) causing a mild and slightl...

Glucose-dependent insulinotropic peptide receptor overexpression in adrenocorti...

BACKGROUND: The molecular mechanisms involved in the genesis of the adrenocortical lesions seen in MEN1 syndrome (ACL-MEN1) remain poorly understood; loss of heterozygosity at 11q13 and somatic mutations of MEN1 are not usually found in these lesions. Thus, additional genes must be involved in MEN1 adrenocortical disorders. Overexpression of the glucose-dependent insulinotropic peptide receptor has been shown t...

46,XY DSD due to impaired androgen production