Commonly used tests include a complete blood count (CBC), bone marrow examination, leukocyte telomere length test (e.g. Flow FISH), pulmonary function test, and genetic testing. Management
The mainstay of treatment in dyskeratosis congenita is hematopoietic stem cell transplantation, best outcome with sibling donor. Short term therapy in initial stages is with anabolic steroids [oxymetholone, danazol] or with erythropoietin-like hormones or with granulocyte-colony stimulating factor [filgrastim) all these therapies are directed to cope with effects of bone marrow failure which manifests as low red and white blood cell counts. These medications help to increase the blood components and make up for the deficiencies caused due to bone marrow failure. Dyskeratosis Congenita in regards to stem cell transplantation have to be very carefully treated with low intensity radiation/chemo to avoid potentially catastrophic effects of Host versus graft disease and toxicity to other organs affected by short telomeres which makes them very sensitive to any radiation especially the lungs, and liver. Prognosis
DC is associated with shorter life expectancy, but many live to at least age 60. Main cause of mortality in these patients are related to bone marrow failure. Nearly 80% of the patients of dyskeratosis congenita develop bone marrow failure. Research
Recent research has used induced pluripotent stem cells to study disease mechanisms in humans, and discovered that the reprogramming of somatic cells restores telomere elongation in dyskeratosis congenita (DKC) cells despite the genetic lesions that affect telomerase. The reprogrammed DKC cells were able to overcome a critical limitation in TERC levels and restored function (telomere maintenance and self-renewal).
Intersex activists have preferred the word intersex, since the word hermaphrodite is considered to be stigmatizing, as well as "scientifically specious and clinically problematic. "There are no hermaphroditic species among mammals or birds. According to David B. Rivers there is controversy around hermaphroditism in insects with some experts believing it does not occur. Hermaphroditism is said to occur in one or two insect species.A rough estimate of the number of hermaphroditic animal species is 65,000. The percentage of animal species that are hermaphroditic is about 5% in all animal species, or 33% excluding insects. (Although the current estimated total number of animal species is about 7.7 million, the study, which estimated the number, 65,000, used an estimated total number of animal species, 1,211,577 from "Classification phylogénétique du vivant (Vol. 2)" - Lecointre and Le Guyader (2001)). Most hermaphroditic species exhibit some degree of self-fertilization. The distribution of self-fertilization rates among animals is similar to that of plants, suggesting that similar pressures are operating to direct the evolution of selfing in animals and plants. Etymology
The term derives from the Latin: hermaphroditus, from Ancient Greek: ἑρμαφρόδιτος, romanized: hermaphroditos, which derives from Hermaphroditus (Ἑρμαφρόδιτος), the son of Hermes and Aphrodite in Greek mythology. According to Ovid, he fused with the nymph Salmacis resulting in one individual possessing physical traits of male and female sexes; according to the earlier Diodorus Siculus, he was born with a physical body combining male and female sexes. The word hermaphrodite entered the English lexicon as early as the late fourteenth century.