Sex disorder

Jef Marc Valencia · 73問 · 2年前

通報

問題一覧

A genetic condition in individuals assigned male at birth, involves an extra X chromosome (XXY instead of XY)

KLINEFELTER SYNDROME

What chromosome is impaired in Klinefelter syndrome

47,XXY

What chromosome variation is present in KIinefleter syndrome

EXTRA CHROMOSOME X

What type of protein is affected in Klinefelter syndrome

ALPHA 1 ANTITRYPSIN, CERULOPLASMIN

Give at least 5 s/s of klinefelter syndrome

GYNECOMASTIA, ERECTILE DYSFUNCTION, INFERTILITY

Inheritance pattern of Klinefelter syndrome

NOT INHERITED

Treatment available for Klinefelter syndrome

TESTOSTERONE REPLACEMENT, FERTILITY TREATMENT, BREAST TISSUE SURGERY

XYY syndrome is also known as

JACOBS SYNDROME

A rare genetic condition affecting males who have an extra Y chromosome in most or all of their cells

XYY SYNDROME

Refers to only some cells carry the extra Y chromosome like in Jacobs syndrome

MOSAICISM

Give at least 3 s/s of XYY syndrome

HYPOTONIA, AUTISM, INVOLUNTARY MUSCLE MOVEMENT

Inheritance pattern of XYY syndrome

NOT INHERITED

Available management for XYY syndrome

THERAPY

A genetic disorder that affects only females and occurs when one of the two X chromosomes is either incomplete or missing

TURNER SYNDROME

What chromosome is impaired in the Turner syndrome

46,X

What type of protein is affected in turner syndrome

STRUCTURAL, HORMONE RELATED, REGULATORY

Give at least 3 s/s of turner syndrome

WEBBED NECK, PUFFINESS, INFERTILITY

Inheritance pattern of Turner syndrome

NOT INHERITED

Available management for Turner syndrome

GROWTH HORMONE THERAPY

referred to as Ovotesticular DSD (Disorder of sex development)

HERMAPHRODITISM

a rare condition where a person is born with both ovarian (female) and testicular (male) gonadal tissue.

HERMAPHRODITISM

Tissue might be separate (one ovary, one testis) or combined in one or both gonads

OVOTESTIS

The most common scenario, seen in about 60% of individuals, is having in Hermaphroditism

46,XX

Signal protein defected in Hermaphroditism

RSPO1, WNT4

Transcription factor protein defected in hermaphroditism

SRY, SOX9

Defective protein in hermaphroditism can lead to partial testicular development and ovotestis formation

RSPO1

Defective protein in hermaphroditism that reduce ovary-promotingsignals, allowing some testicular tissue to form alongside ovarian tissue

WNT4

Defective protein in hermaphroditism that can trigger partial testis/ovotestis formation.

SRY

Defective protein in hermaphroditism that can disrupt normal gonad development, potentially leading to an ovotestis

SOX9

Presence of Internal Female Structures in hermaphroditism

MULLERIAN DERIVATIVE

Variable Internal Male Structures in hermaphroditism

WOLFFIAN DUCT

Clinical manifestation of Hermaphroditism

AMBIGUOUS GENITALIA AT BIRTH

Inheritance pattern of hermaphroditism if Not inherited and randomly de novo

SPORADIC

Inheritance pattern of hermaphroditism if S0X9 duplication SRY gets translocated

AUTOSOMAL DOMINANT

Inheritance pattern of hermaphroditism if RSPO1 is protein affected

AUTOSOMAL RECESSIVE

Inheritance pattern of hermaphroditism if having mixed XX/XY cells is also typically a random event, Not inherited random errors in cell division

MOSAICISM

Available management for Hermaphroditism

GONADECTOMY, GENITAL SURGERY

Both ovarian and testicular tissue

HERMAPHRODITISM

Gonads match one sex, but outer anatomy doesn’t

PSEUDOHERMAPHRODITISM

Gene mutation involve in Male pseudohermaphroditism

HSD17B3, SRD5A2, AR

Gene mutation in female pseudohermaphroditism

CYP21A2

HSD17B3 gene mutation refers to

DECREASE TESTOSTERONE SYNTHESIS

SRD5A2 gene mutation refers to

DECREASE DHT PRODUCTION

AR gene mutation refers to

ANDROGEN INSENSITIVITY

CYP21A2 gene mutation refers to

EXCESS ANDROGEN IN CAH

Give at least 3 s/s of pseudohermaphroditism

CRYPTORCHIDISM, CONGENITAL ADRENAL HYPERPLASIA, VIRILIZATION

Inheritance pattern of pseudohermaphroditism if Androgen Insensitivity Syndrome (AIS)

X-LINKED RECESSIVE

Inheritance pattern of pseudohermaphroditism if Congenital Adrenal Hyperplasia (CAH) 5-alpha reductase deficiency (SRD5A2 mutations)

AUTOSOMAL RECESSIVE

Inheritance pattern of pseudohermaphroditism if New mutations or chromosomal anomalies

SPORADIC

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

Intelligence is usually in the normal range, although IQ is on average ___points lower than siblings in XYY syndrome

10-15

Turner syndrome chromosome

45, X

Phenotypically female but are short in stature and do not exhibit sexual maturation.

TURNERS SYNDROME

Intersex conditions are sometimes referred to as disorders

DISORDER OF SEXUAL DEVELOPMENT

The condition of having both male and female reproductive organs.

HERMAPHRODITISM

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

Refers to an individual with ovaries but with secondary sexual characteristics or external genitalia resembling those of a male

FEMALE PSEUDOHERMAPHRODITISM

Also known as adrenogenital syndrome, is a common cause of female pseudohermaphroditis

CONGENITAL ADRENAL HYPERPLASIA

Refers to individuals whose gonads are testes but whose secondary sexual characteristics or external genitalia resemble those of a female.

MALE PSEUDOHERMAPHRODITISM

Male pseudohermaphroditism is rare and almost always results from

AUTOSOMAL RECESSIVE

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