Gonadal dysgenesis

Even if the percentage for hormonal and gonadal abnormalities is more compared to chromosomal abnormalities in SA, cytogenetic investigation is a must. The percentage of total CA (16%) in SA of the present study will hold good with previous studies which vary from 5 – 33.3% and pure numerical abnormalities (45,X; 47,XXX) could not be observed (table 3). The CA observed was only X mosaicism in two of the studies (gupta, Butnarui) as compared to present study (16/43%). The percentage for X mosaicism

Swyer Syndrome, also refered as XY gonadal dysgenesis, is a rare disorder in which sexual development is affected. Sexual development is usually determined by an individual’s chromosomes but with Swyer Syndrome that is not the case. This disorder affects 1 in 80,000 people. “Sywer Syndrome was first described in the medical literature by Dr.Swyer in 1955.” (2016). Individuals with this disease are born with 46, XY, Karyotype but have female reproductive parts. Even though these women are born without

INTRODUCTION Amenorrhoea is the absence of menstrual bleeding. It is a normal feature in prepubertal, pregnant and postmenopausal women. Pregnancy is the first to be considered in females with amenorrhoea in reproductive age. In the absence of pregnancy, the challenge is to determine the exact cause of amenorrhoea. Primary amenorrhoea is difficult to define as there is a great variation in the time of onset of menstruation. However, it coincides well with the development of puberty or secondary sexual

Gonadal Dysgenesis Gonadal Dysgenesis, also known as turner syndrome, is a rare medical disorder that affects 1 in every 2,500 girls (kidshealth). It is a chromosomal that occurs when one of the two X chromosomes found in females are missing or is incomplete. This condition only affects females. Although researches don’t know exactly what cause turner syndrome, they do know that it’s a problem with a female chromosome. Females who are born with Tuner Syndrome are short in height and effects

The female eligibility requirements established by the International Association of Athletics Federation and the International Olympic Committee are unethical and discriminatory. According to these governing boards, it is acceptable to prohibit female athletes with hyperandrogenism from competing at sanctioned events. However, according to Katrina Karkazis of the Stanford Center for Biomedical Ethics, these guidelines are unfounded and essentially disbar female athletes who “are (considered) “too

What is Turner Syndrome? Turner Syndrome was named after Dr. Henry Turner who discovered it in 1938, but also referred to as Ullrich-Turner, Bonnevie-Ullrich-Turner, and Gonadal Dysgenesis. This syndrome occurs in 1 out of 200,000 females. Making it a rare syndrome that only 70,000 people in the whole world has. Turner syndrome is a lifelong condition. Most people live long and healthy lives, yet some are susceptible to numerous chronic conditions. Genes are passed on to a child from each parent

Turner Syndrome or otherwise medically known as Ullrich-Turner syndrome, gonadal dysgenesis is a chromosomal condition and this condition affects a female’s development. From an article Turner Syndrome Complications by Kelly M. Rehan (2014) “Turner syndrome was first discovered in 1938 by Dr. Henry Turner while studying a group of seven girls who all had the same unusual developmental and physical features” .Turner syndrome in chromosomal conditions is related to the x chromosome, This type of genome

Congenital Adrenal Hyperplasia (CAH) is a family of autosomal recessive disorders caused by impairment of biosynthesis of cortisol, aldosterone, and androgens. More than 85-90% of CAH is due to 21-hydroxylase deficiency. This is due to the defect in 2 genes-CYP21P and CYP21. 90% of the mutated forms causing 21-hydroxylase deficiency and they all recombination between CYP21 and CYP21P. Clinically they all are divided into two forms deficiency are described- the classical form, which is subdivided