Delayed puberty or inappropriate secondary sexual development
Abnormal puberty, whether premature or delayed, may adversely influence each of these events resulting in an untimely or altered ability for spontaneous secondary sexual development and spontaneous reproduction or abnormal growth.
Puberty is the period of growth that bridges childhood to adulthood and results in physical and sexual maturity as well as the capacity for reproduction. Significant pathology can result in both advanced and delayed puberty and can result in altered attainment of adult height, secondary sexual characteristics and reproductive capacity.
In recent years numerous advances have been made in molecular medicine and the assisted reproductive technologies. The impact of these advances has had a tremendous effect on the care of patients with abnormal puberty by changing the initial counseling provided to our patients, allowing for new treatments during the time of altered pubertal growth; and, providing reproductive options to individuals previously known to be infertile and some considered sterile. In addition, new insight about the physiology of puberty and the genetics of these disorders has accumulated.
Puberty is the period of growth that bridges childhood to adulthood and results in physical and sexual maturity as well as the capacity for reproduction. Significant pathology can result in both advanced ……
There may be unpleasant outcome for the fetus or the mother or both, if the couple had not done the prenatal diagnosis. Congenital anomalies account for 20 to 25% of perinatal deaths. Prenatal ….
This test can detect loss or gain of material in any region of any chromosome as well as both balanced and unbalanced structural rearrangements such as translocations and inversions.
For male infertility, screening tool like Sperm FISH is used for counseling couples with male factor infertility. The analysis can also be undertaken as a rapid investigation for whole chromosome …….
Half of the first-trimester miscarriages are caused by fetal chromosome abnormalities diagnosed by conventional techniques. Techniques such as chromosomal comparative genomic ……..
Chromosomal abnormalities can happen in any cell in the body when egg and sperm cells are being made, during early fetal development, or after birth. A routine cytogenetic analysis involves ……
The availability of molecular tools has expanded the resolution and capability of cytogenetic analysis. The CIMAR cytogenetics facility accepts a variety of samples for karyotyping, FISH as well as ……..
Genetic disorders of the sex chromosome (like disorders of the autosomes) can be either numerical or structural, and can be present in all cells or in a mosaic form. Samples can be referred for a wide ……..
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