Genetics, Reproductive and Others Flashcards
1
Q
Down Syndrome
A
- 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
2
Q
Turner Syndrome
A
- 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.
3
Q
Klinefelters Syndrome
A
- 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.
4
Q
Sickle Cell Anemia
A
- 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
5
Q
Tay Sachs
A
- 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
6
Q
Endometriosis
A
- 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
7
Q
Pelvic Inflammatory Disease
A
- 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
8
Q
PCOS
A
- 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
9
Q
BPH (Benign Prostatic Hyperplasia)
A
- 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
10
Q
Prostatitis
A
- 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