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View article: A Novel Homozygous <i>BMP15</i> Mutation Causes Ovarian Dysgenesis and Primary Amenorrhea
A Novel Homozygous <i>BMP15</i> Mutation Causes Ovarian Dysgenesis and Primary Amenorrhea Open
Context Despite a growing number of studies, the genetic etiology in many cases of ovarian dysgenesis is incompletely understood. Objectives This work aimed to study the genetic etiology causing absence of spontaneous pubertal development,…
View article: PMON193 Reactive oxygen species in the development of gonadal failure in late-onset transaldolase deficiency
PMON193 Reactive oxygen species in the development of gonadal failure in late-onset transaldolase deficiency Open
Background Deficiency in Transaldolase, an essential enzyme in regulating NADPH and ribose 5-phosphate production, has been reported in only 39 patients to date. Most patients present already prenatally/neonatally with intra uterine growth…
View article: Severe Virilization in a Girl With the Homozygous G200SNicotinamide Nucleotide Transhydrogenase Mutation Is Surprisingly Caused by Rare Bilateral Para-Overian Adrenal Rest Tumors
Severe Virilization in a Girl With the Homozygous G200SNicotinamide Nucleotide Transhydrogenase Mutation Is Surprisingly Caused by Rare Bilateral Para-Overian Adrenal Rest Tumors Open
Background: Patients with NNT (Nicotinamide Nucleotide Transhydrogenase) gene mutations, a rare cause of glucocorticoid and mineralocorticoid deficiency require hormone replacement therapy. Adrenal Rest Tumor (ART) in females is very rare …