Genetics, Reproductive and Others

Question 1

Down Syndrome

Answer 1

• Caused by the presence of an extra autosome, nondisjunction (chromosome 21)
• Results in mental retardation and shorter life expectancy
• Characteristic appearance: slanted eyes, extra fold of skin at upper medial corner of the eye, protrusion of the tongue, short nose
• Short stature, underdeveloped sex organs

Question 2

Turner Syndrome

Answer 2

• Turner syndrome/Monosomy X: (X-) (only one “X”)
• most common feature of Turner syndrome is short stature, which becomes evident by about age 5
• early loss of ovarian function (premature ovarian failure) is also very common.

Question 3

Klinefelters Syndrome

Answer 3

• Klinefelter syndrome: polysomy X (XXY)
• Males with this condition typically have small testes that do not produce enough testosterone, which is the hormone that directs male sexual development before birth and during puberty.

Question 4

Sickle Cell Anemia

Answer 4

• Autosomal recessive
• Severe anemia caused by single amino acid difference in Hb
• 1/12 black individuals carry the trait
• Causes deformed RBCs with can lodge in capillaries, causing infarcts, pain and necrosis
• The RBCs rupture easily and are removed by the spleen

Question 5

Tay Sachs

Answer 5

• Autosomal Recessive
• Affects Ashkenazi Jews
• Neurological disorder caused by the absence of the enzyme, Hex A -Progressive mental retardation and physical regression
• Fatal at age 2-4; no cure
• Genetic testing, counseling and prenatal screening

Question 6

Endometriosis

Answer 6

• A condition where endometrial tissue is found in ectopic sites outside the uterus
• Symptoms: pelvic and back pain during menstruation **Can cause infertility due to adhesions
• Diagnosis: laparoscopy to visualize lesions
• Treatment: pain relief, endometrial suppression and surgery analgesics, hormonal reduction of endometrial tissue (oral contraceptives)
• Surgery: ablation, hysterectomy and excision

Question 7

Pelvic Inflammatory Disease

Answer 7

• Inflammation of the pelvic reproductive organs as a result of bacterial, viral, fungal, or parasitic infection, usually as a result of sexually transmitted disease
• Subsequent infection can ascend to the cervix (cervicitis) the endometrium (endometritis), fallopian tubes (salpingitis), and ovaries (oophoritis). **Long term damage from scar tissue can lead to permanent infertility
• Symptoms: lower abdominal pain, fever &chills, leukorrhea(a white, foul-smelling vaginal discharge),increased ESR and increased WBC count
• Treatment: antibiotics
• Complications: risk of formation of abscesses, risk of ectopic pregnancy, and infertility from adhesions

Question 8

PCOS

Answer 8

• A common endocrine disorder affecting 5-10% of women
• Signs:Menstrual irregularity,hyperandrogenism (acne, hirsutism, male pattern hair loss),infertility,yyperinsulinemia or insulin resistance(many women are obese),polycystic ovaries,chronic anovulation may cause the polycystic ovaries
• Etiology: unknown
• Diagnosis: clinical presentation, endocrine evaluation
• Treatment:symptom relieve and reduction of risk for diabetes and CV disease,weight loss,oral contraceptives,insulin sensitizing agents
• The metabolic consequences can cause long term health risks:CVD,Yype II DM, HTN, lipid abnormalities, estrogen may increase risk of endometrial cancer

Question 9

BPH (Benign Prostatic Hyperplasia)

Answer 9

• Age-related, non-malignant enlargement of the prostate gland
• Symptoms are a r_esult of the enlarged prostate partially blocking the flow of urine from the bladder_
• Treatment: surgical removal

Question 10

Prostatitis

Answer 10

• Inflammation of the prostate, sometimes caused by infection (STD or UTI)
• Symptoms: Pain and a burning sensation during urination,prostate may be tender,pus from the tip of the penis
• Treatment:penicillin