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1
A genetic condition in individuals assigned male at birth, involves an extra X chromosome (XXY instead of XY)
KLINEFELTER SYNDROME
2
What chromosome is impaired in Klinefelter syndrome
47,XXY
3
What chromosome variation is present in KIinefleter syndrome
EXTRA CHROMOSOME X
4
What type of protein is affected in Klinefelter syndrome
ALPHA 1 ANTITRYPSIN, CERULOPLASMIN
5
Give at least 5 s/s of klinefelter syndrome
GYNECOMASTIA, ERECTILE DYSFUNCTION, INFERTILITY
6
Inheritance pattern of Klinefelter syndrome
NOT INHERITED
7
Treatment available for Klinefelter syndrome
TESTOSTERONE REPLACEMENT, FERTILITY TREATMENT, BREAST TISSUE SURGERY
8
XYY syndrome is also known as
JACOBS SYNDROME
9
A rare genetic condition affecting males who have an extra Y chromosome in most or all of their cells
XYY SYNDROME
10
Refers to only some cells carry the extra Y chromosome like in Jacobs syndrome
MOSAICISM
11
Give at least 3 s/s of XYY syndrome
HYPOTONIA, AUTISM, INVOLUNTARY MUSCLE MOVEMENT
12
Inheritance pattern of XYY syndrome
NOT INHERITED
13
Available management for XYY syndrome
THERAPY
14
A genetic disorder that affects only females and occurs when one of the two X chromosomes is either incomplete or missing
TURNER SYNDROME
15
What chromosome is impaired in the Turner syndrome
46,X
16
What type of protein is affected in turner syndrome
STRUCTURAL, HORMONE RELATED, REGULATORY
17
Give at least 3 s/s of turner syndrome
WEBBED NECK, PUFFINESS, INFERTILITY
18
Inheritance pattern of Turner syndrome
NOT INHERITED
19
Available management for Turner syndrome
GROWTH HORMONE THERAPY
20
referred to as Ovotesticular DSD (Disorder of sex development)
HERMAPHRODITISM
21
a rare condition where a person is born with both ovarian (female) and testicular (male) gonadal tissue.
HERMAPHRODITISM
22
Tissue might be separate (one ovary, one testis) or combined in one or both gonads
OVOTESTIS
23
The most common scenario, seen in about 60% of individuals, is having in Hermaphroditism
46,XX
24
Signal protein defected in Hermaphroditism
RSPO1, WNT4
25
Transcription factor protein defected in hermaphroditism
SRY, SOX9
26
Defective protein in hermaphroditism can lead to partial testicular development and ovotestis formation
RSPO1
27
Defective protein in hermaphroditism that reduce ovary-promotingsignals, allowing some testicular tissue to form alongside ovarian tissue
WNT4
28
Defective protein in hermaphroditism that can trigger partial testis/ovotestis formation.
SRY
29
Defective protein in hermaphroditism that can disrupt normal gonad development, potentially leading to an ovotestis
SOX9
30
Presence of Internal Female Structures in hermaphroditism
MULLERIAN DERIVATIVE
31
Variable Internal Male Structures in hermaphroditism
WOLFFIAN DUCT
32
Clinical manifestation of Hermaphroditism
AMBIGUOUS GENITALIA AT BIRTH
33
Inheritance pattern of hermaphroditism if Not inherited and randomly de novo
SPORADIC
34
Inheritance pattern of hermaphroditism if S0X9 duplication SRY gets translocated
AUTOSOMAL DOMINANT
35
Inheritance pattern of hermaphroditism if RSPO1 is protein affected
AUTOSOMAL RECESSIVE
36
Inheritance pattern of hermaphroditism if having mixed XX/XY cells is also typically a random event, Not inherited random errors in cell division
MOSAICISM
37
Available management for Hermaphroditism
GONADECTOMY, GENITAL SURGERY
38
Both ovarian and testicular tissue
HERMAPHRODITISM
39
Gonads match one sex, but outer anatomy doesn’t
PSEUDOHERMAPHRODITISM
40
Gene mutation involve in Male pseudohermaphroditism
HSD17B3, SRD5A2, AR
41
Gene mutation in female pseudohermaphroditism
CYP21A2
42
HSD17B3 gene mutation refers to
DECREASE TESTOSTERONE SYNTHESIS
43
SRD5A2 gene mutation refers to
DECREASE DHT PRODUCTION
44
AR gene mutation refers to
ANDROGEN INSENSITIVITY
45
CYP21A2 gene mutation refers to
EXCESS ANDROGEN IN CAH
46
Give at least 3 s/s of pseudohermaphroditism
CRYPTORCHIDISM, CONGENITAL ADRENAL HYPERPLASIA, VIRILIZATION
47
Inheritance pattern of pseudohermaphroditism if Androgen Insensitivity Syndrome (AIS)
X-LINKED RECESSIVE
48
Inheritance pattern of pseudohermaphroditism if Congenital Adrenal Hyperplasia (CAH) 5-alpha reductase deficiency (SRD5A2 mutations)
AUTOSOMAL RECESSIVE
49
Inheritance pattern of pseudohermaphroditism if New mutations or chromosomal anomalies
SPORADIC
50
Affected individuals are usually very tall. Many experience severe acne during adolescence. Additional symptoms may include learning disabilities and behavioral problems such as impulsivity.
XYY SYNDROME
51
Intelligence is usually in the normal range, although IQ is on average ___points lower than siblings in XYY syndrome
10-15
52
Turner syndrome chromosome
45, X
53
Phenotypically female but are short in stature and do not exhibit sexual maturation.
TURNERS SYNDROME
54
Intersex conditions are sometimes referred to as disorders
DISORDER OF SEXUAL DEVELOPMENT
55
The condition of having both male and female reproductive organs.
HERMAPHRODITISM
56
A condition in which the individual has a single chromosomal and gonadal sex but combines features of both sexes in the external genitalia causing doubt as to the true sex
PSEUDOHERMAPHRODITISM
57
Refers to an individual with ovaries but with secondary sexual characteristics or external genitalia resembling those of a male
FEMALE PSEUDOHERMAPHRODITISM
58
Also known as adrenogenital syndrome, is a common cause of female pseudohermaphroditis
CONGENITAL ADRENAL HYPERPLASIA
59
Refers to individuals whose gonads are testes but whose secondary sexual characteristics or external genitalia resemble those of a female.
MALE PSEUDOHERMAPHRODITISM
60
Male pseudohermaphroditism is rare and almost always results from
AUTOSOMAL RECESSIVE
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