Male pseudohermaphroditism resulting from Leydig cell hypoplasia

The molecular landscape of osteogenesis imperfecta in a Brazilian tertiary service cohort.

Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA·2020

Real-world impact of glucocorticoid replacement therapy on bone mineral density: retrospective experience of a large single-center CAH cohort spanning 24 years.

Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA·2020

Spontaneous fertility in a male patient with testotoxicosis despite suppression of FSH levels.

Human reproduction (Oxford, England)·2018

Malignant testicular germ cell tumors in postpubertal individuals with androgen insensitivity: prevalence, pathology and relevance of single nucleotide polymorphism-based susceptibility profiling.

Human reproduction (Oxford, England)·2017

Identification of the first homozygous 1-bp deletion in GDF9 gene leading to primary ovarian insufficiency by using targeted massively parallel sequencing.

Clinical genetics·2017