A subsequent study published in 2011 and conducted on three different families found that 8 members of these families with clinically diagnosed Emberger syndrome  as well as six sporadic cases of individuals with this clinical diagnosis exhibited one of eight different mutations in one of their two parental GATA2 genes. Each mutation was predicted to reduce the levels of functional GATA2. Thus, reduced levels of functionally competent GATA2 transcription factor resulting from a mutation in one of its genes is responsible for the Emberger syndrome. == References ==
The comparative effectiveness of clascoterone between males and females was not described.A small pilot randomized controlled trial in 2011 found that clascoterone cream decreased acne symptoms to a similar or significantly greater extent than tretinoin 0.05% cream. No active comparator was used in the phase III clinical trials of clascoterone for acne. Hence, its unclear how clascoterone compares to other therapies used in the treatment of acne. Available forms
Clascoterone is available in the form of a 1% (10 mg/g) cream for topical use. Contraindications
Clascoterone has no contraindications. Side effects
The incidences of local skin reactions with clascoterone were similar to placebo in two large phase 3 randomized controlled trials. Suppression of the hypothalamic–pituitary–adrenal axis (HPA axis) may occur during clascoterone therapy in some individuals due to its cortexolone metabolite. HPA axis suppression as measured by the cosyntropin stimulation test was observed to occur in 3 of 42 (7%) of adolescents and adults using clascoterone for acne. HPA axis function returned to normal within 4 weeks following discontinuation of clascoterone. Hyperkalemia (elevated potassium levels) occurred in 5% of clascoterone-treated individuals and 4% of placebo-treated individuals. Pharmacology
Pharmacodynamics
Clascoterone is a steroidal antiandrogen, or antagonist of the androgen receptor (AR), the biological target of androgens such as testosterone and dihydrotestosterone (DHT). In a bioassay, the topical potency of the medication was greater than that of progesterone, flutamide, and finasteride and was equivalent to that of cyproterone acetate.