Term
| What are the 5 chromosome types that are found in Klinefelters Syndrome? |
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Definition
| 47 XXY, 46XY/47XXY, 48XXYY, and 49 XXXXY |
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Term
| How does Kinefelter's Syndrome occur? |
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Definition
Paternal or maternal non-disjunction during meiosis or mitosis (maternal NDJ increases with mother age)
This is an issue with gene dosage. Genes that escape the inactivation process are highly expressed. May involve higher estrogen level that effects sertoli/leydig cells |
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Term
| What type of alleles are found? |
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Definition
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Term
| What is Klinefelter triad? |
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Definition
| Small firm testes, gynecomastia, azoospermia |
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Term
| What are the autoimmune disorders and malignancies associated with Klinefelters? |
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Definition
Malignancies: breast cancer (20 times greater than XY men and 20% the rate of occurrence in women), nonlymphocytic leukemia, lymphomas, marrow dysplastic syndromes, extragonadal germ cell neoplasms
Autoimmune disorders: chronic lymphocytic thyroiditis, Takayasu arteritis, taurodontism (enlarged molar teeth), mitral valve prolapse, varicose veins, asthma, bronchitis, osteoporosis, abnormal glucose tolerance testing, diabetes, varicose veins |
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Term
| What disorder is a male with cystic fibrosis at risk for? |
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Definition
| Congenital Absence of Vas Deferens (CAVD). This results in azoospermia. vas deferens, which may be absent, atrophic, or fibrotic. The body and tail of the epididymis and seminal vesicles may be abnormally dilated or absent. |
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Term
| Spermatid vs Spermatozoan? |
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Definition
Spermatid: non-motile, round, non-specialized
Spermatozoan: motile, elongate, specialized components, special surface molecules and characteristics |
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Term
| Events of spermiogenesis? |
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Definition
1. Nuclear shaping/condensation due to change in chromatin packing- change from somatic histones to sperm specific protamines
2. Flagellar tail forms from elongation of microtubules from distal centrosome
3. Formation of acrosome at head
4.Organs rearrange-Mitochondria spiral to form midpiece in anterior portion of axoneme of flagella.
5. Most cytoplasm lost as residual body
6. Gene activation |
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Term
| What is Kartagener's Syndrome? |
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Definition
| Immotile cilia due to a dynein arm defect. Results in male/female infertility, bronchiectasis and recurret sinusitis (bacteria/particles not pushed out). Ass with situs inversus |
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Term
| What defect is seen in sperm of Kartagener's Syndrome? |
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Definition
| Sperm lack dynein arm of A subfibres in flagellar axoneme. |
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Term
| What is the inheritance of Androgen Insensitivity Syndrome? |
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Definition
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Term
| What is the mutation in Androgen Sensitivity Syndrome? |
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Definition
| Mutation in X-linked androgen receptor gene (Xq11-q12). |
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