2. Is there anything that they could try to do to stimulate spermatogenesis? Why is the absence of facial hair important?…
Discussion- Testicular feminization syndrome also known as Androgen Insensitivity Syndrome, is an X-linked recessive disorder of sexual differentiation. Baby born at birth is genetically male with 46 XY but phenotypically present as female. At puberty they attain secondary sexual characteristics with cryptorchidism. It is due to mutation in AR gene present on X-chromosome which is unresponsive to androgen stimulation leading to failure masculinization of external…
They may present with a number of types of congenital heart disease (e.g. atrial septic defect, ventricular septal defect, or patent ductus arteriosus) Children with the syndrome might have a hernia, abnormalities of their urogenital system, malformed kidneys, or undescended testicles if they are male.…
Aarskog syndrome (also known as Aarskog–Scott syndrome, faciodigitogenital syndrome, shawl scrotum syndrome and faciogenital dysplasia) is a rare autosomal X-linked inherited disorder that affects a person's height, muscles, skeleton, genitals, and appearance of the face. It mostly affects at birth and the symptoms usually become apparent by the age of 3years. Unfortunately, Aarskog syndrome is a lifelong condition without a cure. Some people with Aarskog syndrome are born with more serious abnormalities, such as heart defects or a cleft lip with or without an opening in the roof of the mouth (cleft palate). Most males with Aarskog syndrome have a shawl scrotum, in which the scrotum surrounds the penis. Less often, they have undescended testes (cryptorchidism) or a soft out-pouching around the belly-button (umbilical hernia) or in the lower abdomen (inguinal hernia).…
12. The movement of the testes during descent is aided by a fibromuscular cord called the _______________.…
Rare diseases range from cystic fibrosis and haemophilia to Angelman Syndrome, with an incidence of about 1 in 15,000, to Opitz trigonocephaly syndrome, which is extremely rare with about one case per million people.[5] In this review, we will focus on Primary testicular Leiomyosarcoma, which is very rare with only a few cases being reported in the literature till date. They should be differentiated from epididymo-orchitis, sarcomas of the spermatic cord and germ cell tumours. In this tumour, due to lack of data on the natural history, histological criteria for diagnosis and treatment recommendations, there is lack of proper guidelines regarding treatment. Most of the reported cases of previous literatures indicate that this may be an indolent tumour with a potential for cure if treated…
Congenital Adrenal Hyperplasia is a form of intersexualism in which a genetic female has internal female sexual structures but masculinized external genitals. Androgen-insensitivity syndrome is a form of intersexualism in which a genetic male is prenatally insensitive to androgens such that his genitals are not normally masculinized. Dominican Republic Syndrome is a form intersexualism in which a genetic enzyme disorder prevents testosterone from masculinizing the external genitalia. CAH is caused by exposure to androgens which are produced naturally through adrenal or mothers may have received synthetic androgens to prevent miscarriage in women who have a family history of miscarriages. Research has been done on CAH and results have shown that girls with CAH act more like a boy. They are more interested in masculine toys such as trucks while girls without are more interested in playing with dolls. Girls with CAH show more aggression in play and tend to have more male friends…
An operation was conducted when the child was 15 months old and the surgeons removed "an abnormal gonad and vas deferens." Pathology studies later exposed that these were actually an ovary with a fallopian tube attached.…
After conception, it is not until the embryo reaches 6 weeks old that gonads begin to develop differently. If the embryo is to be a male, the gene on the Y chromosome triggers the events that transform the male embryo gonads into testes. However if the embryo is to be female, the absence of the Y chromosome, will cause the gonads to automatically develop into ovaries. Once the testes and ovaries have developed they begin to release their own sex hormones; male hormones are known as androgens; female hormones are known as oestrogens.…
Congenital malformation/anomalies can be defined as a physical defect that is present in a baby from birth. It can involve many different systems of the body including central nervous system, cardiovascular system, respiratory system, musculoskeletal system, gastrointestinal system, genitourinary system and reproductive system. These may include brain malformations, facial abnormalities, skin malformations, congenital heart diseases and bones malformations. These malformations are due to underlying genetic etiologies. The reported malformations included corpus callosum dysplasia for brain, cutaneous dyschromia for skin, ear malformations and brachydactyly for skeletal malformations. Caramaschi E, et al reported malformations and dysmorphism as predictors in which they defined malformation as major organ anomalies including the heart and genitourinary system29. However, they did not define the dysmorphisms.…
You know there's a problem if you start coughing up blood—but how to react when you start sweating blood? The patient tends to break out in the bloody sweating when she's either asleep or doing something physical, and the condition seems to get worse when she's stressed. An episode can last up to five minutes. Although it's not known what spurs such bleeding, different theories have emerged. A Toronto hematologist thinks this patient has "a very bizarre anatomical defect on a microscopic level" that's causing her bleeding.…
Kowalsaki, J. (2013, Dec 05). The Testicular Cancer Primer. Retrieved April 20, 2013, from tcrc.acor.org.…
Genetic information is complex and overwhelming and there are many resources available via the internet containing detailed facts on the subject. For this assignment, I will summarize information that is available from various genetic websites and who might find these types of sites useful. I will also select two abnormalities of sex chromosomes and two gene-linked abnormalities from Chapter 2 of our text entitled Child Development (Santrock, 2014) and use the information from the websites to provide a brief report on each abnormality.…
The research question that is being studied in this news article is the use of marijuana and the risk of testicular cancer. The exposure is the use of marijuana and the outcome is testicular cancer. According to Cortessis (2012), “testicular cancer is on the rise” as well as testicular cancer being more common in young men might be why this study was conducted. Nonetheless, marijuana usage is more common as well as the rise of testicular cancer, so they might have wanted to see if the two had any correlation. I also feel like this study was conducted because the use of marijuana has become more common among the younger crowd, as well more people are using for not only recreational but also medically.…
2. Is there anything that they could try to do to stimulate spermatogenesis? Why is the absence of facial hair important?…