Term
| Complications and Dysfunction Classifications |
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Definition
| 1. Chromosomal abnormalities 2. Hormone receptor disorders 3. Hormone synthesis disorder 4. Stress induced problems 5. Physiologic issues |
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Term
| Chromosomal Abnormalities are due to: |
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Definition
| NON-DISJUNCTION in EITHER MITOSIS OR MEIOSIS |
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Term
| Non-disjunction can occue in: |
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Definition
| either MITOSIS or MEIOSIS |
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Term
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Definition
| XXY. About 1 in 800 MALE births. Slow or missed diagnoses. Treatment w/ testosterone or one of its varients. Sex-reassignment |
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Term
| Klinefelter's Syndrome common side effects: |
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Definition
| Sterility, Small testes, Low testosterone, greater highth, breast development, incomplete masuline body build, social and/or learning problems |
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Term
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Definition
| XO. About 1 in 2500 FEMALE births. Normal intelligence. Treatment w/ growth hormones and estrogen |
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Term
| Turner's Syndrome common side effects: |
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Definition
| Short stature/broad chest. Ovary failure/infertility. Puffy hands & feet. Webbed neck & low neck hairline. High blood pressue. Type II diabetes. |
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Term
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Definition
| an individual having more than one genetically distict population of cells |
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Term
| Non-disjunction in MITOSIS can have little effect or result in chimerism if: |
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Definition
| 1. Mitotic non-disjunction occures in an ADULT, there is NO problem. 2. It happens LATE in fetal or childhood development, small cell lines will be different. 3. It happens soon after fertilization there can be very distinct genetically different cell lines |
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Term
| Human chimerism is more frequently linked to: |
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Definition
| 1. Fusion of fraternal twin embryos (Male & Female twins - most frequent) (Two Female or two Male twins - variation in the genes) 2. Stem cell treatment (e.g. bone marrow) 3. Organ Transplants |
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Term
| Hormone Receptor Disorders |
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Definition
| ANDGROEN Insensitivity Disorder (AIS) & ESTROGEN Insensitivity Disorder (EIS) |
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Term
| Androgen Insensitivity Disorder (AIS) |
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Definition
| Occurs in genetic MALES (XY) who have a mutation on the X-chromosome in the gene that codes for androgen receptors. Receptors may be totally absent, partially or completely non-functional. RESULT is either COMPLETE AIS or PARTIAL AIS. **Y-CHROMOSOME DIRECTS THE FORMATION OF THE TESTES. |
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Term
| No receptors for testosterone to preserve Wolffian ducts, so: |
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Definition
| NO male ducts or glands are present, BUT, anti-Mullerian hormone is fully functional, so NO INTERNAL FEMALE STRUCTURES FORM either. |
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Term
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Definition
| 1 to 3 in 130,000 live births |
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Term
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Definition
| Parital libial fusion, enlarged clitoris, completely fused pabia, hypospadias, penis small |
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Term
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Definition
| 1 to 2 in 20,000 live births. |
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Term
| Total inability for testosterone to function causes: |
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Definition
| female body shape, large breast, sparse or absent axillary and pubic hair, absence of balding, blind-ended vagina (1/3 normal vagina), testes not descended, higher levels of estrogen |
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Term
| Estrogen Insensitivity Syndrome (EIS) |
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Definition
| caused by a recessive mutation in the gene for the estrogen receptor, RARE - few documented cases, first in Cincy 1994 - 28 year old man, 6'8" tall and still gorwing, bone age of 15 yrs, pronounced osteoporosis, high circulating estradiol |
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Term
| Hormone Biosynthesis Disorders: |
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Definition
| Androgen Deficiency, 5-Alpha-Reductase Deficiency, Congenital Adrenal Hyperplasia (CAH), Anti-Mullerian Hormone Deficiency, Estrogen Deficiency |
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Term
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Definition
| Klinefelter's Syndrome, Hypothalamic or Pituitary Problems, 5-Alpha-reductase deficiency, Aging in men |
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Term
| 5-Alpha-Reductase Deficiency |
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Definition
| Deficiency in the enzyme that converts testosterone to dihydrotestosterone (DHT) - due to a recessive allele mutation. Boys are born with ambiguous genitalia, resembling that of a girl, at puberty, increased testosterone levels cause descent of testis, growth of penis, formation of scrotum, etc. |
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Term
| 5-Alpha-Reductase Deficiency |
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Definition
| High incidence in Dominican Republic, Turkey, Papua, New Guinea. Individuals are often raised as girls, then switch at puberty to boy. It is so frequent in come places that it is accepted as a normal event |
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Term
| Androgen Deficiency - MALE AGING |
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Definition
| Androgens levels decrease with age, testosterone levels 60% of young men are sufficient to maintain normal sexual activity in men under 50, TESTOSTERONE supplements do increase lost muscle mass, increase muscle strength and deter abdominal fat deposits |
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Term
| Congenital Adrenal Hyperplasia (CAH) |
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Definition
| Increase androgen production, due to mutation in gene for enzyme that controls adrenal gland steriod production, XX individuals show major effects, Average frequency is 1:60 births |
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Term
| Congenital Adrenal Hyperplasia (CAH Symptoms |
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Definition
| Male - Early adolescence, enhanced masculine characteristics. Female - varied degrees of masculinization of internal and external genitalia, masculinization in childhood, adolescence or adulthood |
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Term
| Congenital Adrenal Hyperplasia (CAH) Symptoms |
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Definition
| MALES && FEMALES - some forms cause hypertension, severe forms result in disruption to salt and water balance and can be fatal if not treated, some forms produce ambiguous genitalia in males and normal in females but lack feminization at puberty |
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Term
| Erectile Dysfunction major causes: |
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Definition
| Cardiovascular disorders, Nervous system damage, Smooth or Connective tissue damage, Side-effect of medications, Psychological factors |
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Term
| Erectile Dysfunction - Cardiovascular problems: |
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Definition
| Age, Diabetes, High blood pressure, Atherosclerosis, CIG SMOKINGGG |
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Term
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Definition
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Term
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Definition
| Production of ova or sperm |
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Term
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Definition
| Which hormones are produced by the gonads |
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Term
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Definition
| Sexual dimorphism of brain structures |
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Term
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Definition
| External appearence of individual |
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Term
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Definition
| Behaviors specific to the individual relative to behaviors of other individuals |
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Term
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Definition
| Social recognition of individual |
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Term
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Definition
| What the individual considers themselves |
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Term
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Definition
| Government recognition of the individual relative to other individuals |
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Term
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Definition
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Term
| Anti-Mullerian Hormone (AMH) Deficiency |
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Definition
| Due to mutation in the gene coding for AMH, fairly rare, found ONLY IN MALES |
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Term
| Anti-Mullerian Hormone Deficiency Symptoms |
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Definition
| Persistent Mullerian Duct Syndrome (PMDS), Cryptorchidism, Infertility, Tendency for tumors of the germ cells |
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Term
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Definition
| Deficiency in AROMATASE, the enzyme that converts androgens to estrogens |
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Term
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Definition
| First discovered in 1995 in a brother and sister. Female = high androgen to estrogen ratio, masculinization of external genitalia, further masc at puberty, treated w/ estrogen replacement. Male = low estrogen levels, excessive bone growth, low bone age, osteoporosis |
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Term
| Physical Stress & Reproduction in FEMALE |
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Definition
| Strenuous physical activities often affect females, Accompanying phenomena (low LH and FSH leading to low estrogen). ALL ARE RELATED TO INCREASED ENERGY DEMAND, RESPONSES VARY IN DIFFERENT ATHLETIC FEMALES |
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Term
| Physical Stress & Reproduction in FEMALES |
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Definition
| Body fat influences response to physical exercise, Lean athletes have normal menstrual cycles once activity has stopped, other possible causes... |
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Term
| Physical Stress & Reproduction in MALES |
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Definition
| Chronic stenuous exercise after puberty has been associated with - Impaired testicular functions, reduced testosterone levels, changes in sperm count, lowered libido |
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Term
| Nutritional Stress & Reproduction in FEMALES |
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Definition
| Good nutirition is required for successful pregnancy & birth. Responses to poor nutrition begins with suppressed ovulation |
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Term
| Dietary Restriction Categories (Females) |
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Definition
| Involuntary: hunter gatherer populations with seasonal variation in food availability have seasonal births |
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Term
| Dietary Restriction Categories (Females) |
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Definition
| Voluntary: Dieting, Anorexia Nervosa, Bulimia Nervosa |
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