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The HFE H63D is a single-nucleotide polymorphism in the HFE gene (c.187C>G, rs1799945), which results in the substitution of a histidine for an aspartic acid at amino acid position 63 of the HFE protein (p.His63Asp). HFE participates in the regulation of iron absorption. [1] [2] [3] Homozygous H63D variant can occasionally be the cause of ...
Hormone replacement therapy (HRT) can be used to treat hypoestrogenism and menopause related symptoms, and low estrogen levels in both premenopausal and postmenopausal women. Low-dose estrogen medications are approved by the U.S. Food and Drug Administration for treatment of menopause-related symptoms.
XY complete gonadal dysgenesis, also known as Swyer syndrome, is a type of defect hypogonadism in a person whose karyotype is 46,XY. Though they typically have normal vulvas, [1] the person has underdeveloped gonads, fibrous tissue termed "streak gonads", and if left untreated, will not experience puberty.
Due to the nearly absent or nonfunctional streak ovaries (under-developed ovaries that are then small and fibrous tissue, hence the term "streak"), [2] the individual is low in estrogen levels (hypoestrogenic) and has high levels of follicle-stimulating hormone and luteinizing hormone , hormones that cycle in the reproductive system. [3]
A modern hormone pregnancy test, showing a positive result A series of pregnancy test strips, taken one per day at the beginning of a pregnancy. A pregnancy test is used to determine whether a female is pregnant or not. The two primary methods are testing for the female pregnancy hormone (human chorionic gonadotropin (hCG)) in blood or urine ...
A positive result indicates that fetal fibronectin is present in the cervical secretions. A positive result between 22 and 34 weeks gestation signals an increased risk of preterm birth within the next 7 days. A negative result indicates that there is not fetal fibronectin in the cervical secretions. Fetal fibronectin testing has poor ...
There is a range of chromosomal anomalies within 45,X/46,XY where the variations are very complex, and the actual result in living individuals is often not a simple picture. [1] Most patients with this karyotype are known to have abnormal gonadal histology and heights considerably below their genetic potential.
In the neonatal period, adrenocorticotropic hormone deficiency is a potentially fatal condition. [8] TBX19 is involved in the differentiation and proliferation of corticotropic cells, and TBX19 mutations account for 65% of neonatal onset adrenocorticotropic hormone deficiency, which can result in 25% neonatal mortality if not treated. [16]