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1.

Pure gonadal dysgenesis 46,XY

Swyer syndrome is a condition that affects sexual development. Sexual development is usually determined by an individual's chromosomes; however, in Swyer syndrome, sexual development does not match the affected individual's chromosomal makeup.People usually have 46 chromosomes in each cell. Two of the 46 chromosomes, known as X and Y, are called sex chromosomes because they help determine whether a person will develop male or female sex characteristics. Girls and women typically have two X chromosomes (46,XX karyotype), while boys and men usually have one X chromosome and one Y chromosome (46,XY karyotype). In Swyer syndrome, individuals with one X chromosome and one Y chromosome in each cell, the pattern typically found in boys and men, have female reproductive structures.People with Swyer syndrome have typical female external genitalia. The uterus and fallopian tubes are normally-formed, but the gonads (ovaries or testes) are not functional; affected individuals have undeveloped clumps of tissue called streak gonads. Because of the lack of development of the gonads, Swyer syndrome is also called 46,XY complete gonadal dysgenesis. The residual gonadal tissue often becomes cancerous, so it is usually removed surgically early in life.People with Swyer syndrome are typically raised as girls and have a female gender identity. Because they do not have functional ovaries, affected individuals usually begin hormone replacement therapy during adolescence to induce menstruation and development of female secondary sex characteristics such as breast enlargement and uterine growth. Hormone replacement therapy also helps reduce the risk of reduced bone density (osteopenia and osteoporosis). Women with this disorder do not produce eggs (ova), but they may be able to become pregnant with a donated egg or embryo.Swyer syndrome usually affects only sexual development; such cases are called isolated Swyer syndrome. However, depending on the genetic cause, Swyer syndrome may also occur along with health conditions such as nerve problems (neuropathy) or as part of a syndrome such as campomelic dysplasia, which causes severe skeletal abnormalities.
[from GHR]

MedGen UID:
445380
Concept ID:
C2936694
Congenital Abnormality; Disease or Syndrome
2.

Gonadal dysgenesis

Abnormal development of a gonad (ovary or testicle). Men with gonadal dysgenesis have a greater risk of developing testicular cancer. Gonadal dysgenesis is usually part of a genetic syndrome. [from NCI]

MedGen UID:
9075
Concept ID:
C0018051
Congenital Abnormality; Disease or Syndrome
3.

Dysgerminoma

The presence of a dysgerminoma, i.e., an undifferentiated germ cell tumor of the ovary. [from HPO]

MedGen UID:
506500
Concept ID:
CN117513
Finding
4.

Gonadal dysgenesis

MedGen UID:
504357
Concept ID:
CN000129
Finding
5.

Delayed Puberty

The lack of development of SEXUAL MATURATION in boys and girls at a chronological age that is 2.5 standard deviations above the mean age at onset of PUBERTY in a population. Delayed puberty can be classified by defects in the hypothalamic LHRH pulse generator, the PITUITARY GLAND, or the GONADS. These patients will undergo spontaneous but delayed puberty whereas patients with SEXUAL INFANTILISM will not. [from MeSH]

MedGen UID:
46203
Concept ID:
C0034012
Pathologic Function
6.

Amenorrhea

Absence of menses for an interval of time equivalent to a total of more than (or equal to) 3 previous cycles or 6 months. [from HPO]

MedGen UID:
504362
Concept ID:
CN000137
Finding
7.

Delayed puberty

MedGen UID:
373889
Concept ID:
C1838105
Finding
8.

Primary amenorrhea

Abnormally late or absent menarche in a female with normal secondary sexual characteristics.(AE) [from NCI_NICHD]

MedGen UID:
115918
Concept ID:
C0232939
Disease or Syndrome; Finding
9.

Anorchia

The testicular regression syndrome (TRS) was delineated by Sarto and Opitz (1973), who called it the XY gonadal dysgenesis syndrome. It is characterized primarily by the absence of gonads in an XY person. In most cases, uterus and fallopian tubes are absent but small tubular structures interpreted as mullerian or wolffian rudiments (or both) are present. The range of virilizing effects due to early testicular tissue extends from none in phenotypic females with only slightly hypoplastic normal external genitalia, well-formed but hypoplastic uterus, and well-formed tubes (De Marchi et al., 1981) to the anorchic phenotypic male (Edman et al., 1977). Most affected individuals lack a vagina but a urogenital sinus or pseudovaginal urethral outpouching is found. Partial labioscrotal fusion and clitoris enlargement are common, breast development is absent, and postpubertal eunuchoid habitus is the rule. Sometimes nongenital anomalies are present (summary by Rosenberg et al., 1984). [from OMIM]

MedGen UID:
78602
Concept ID:
C0266427
Congenital Abnormality; Disease or Syndrome
10.

46,XY sex reversal, type 3

Swyer syndrome is a condition that affects sexual development. Sexual development is usually determined by an individual's chromosomes; however, in Swyer syndrome, sexual development does not match the affected individual's chromosomal makeup.People usually have 46 chromosomes in each cell. Two of the 46 chromosomes, known as X and Y, are called sex chromosomes because they help determine whether a person will develop male or female sex characteristics. Girls and women typically have two X chromosomes (46,XX karyotype), while boys and men usually have one X chromosome and one Y chromosome (46,XY karyotype). In Swyer syndrome, individuals with one X chromosome and one Y chromosome in each cell, the pattern typically found in boys and men, have female reproductive structures.People with Swyer syndrome have typical female external genitalia. The uterus and fallopian tubes are normally-formed, but the gonads (ovaries or testes) are not functional; affected individuals have undeveloped clumps of tissue called streak gonads. Because of the lack of development of the gonads, Swyer syndrome is also called 46,XY complete gonadal dysgenesis. The residual gonadal tissue often becomes cancerous, so it is usually removed surgically early in life.People with Swyer syndrome are typically raised as girls and have a female gender identity. Because they do not have functional ovaries, affected individuals usually begin hormone replacement therapy during adolescence to induce menstruation and development of female secondary sex characteristics such as breast enlargement and uterine growth. Hormone replacement therapy also helps reduce the risk of reduced bone density (osteopenia and osteoporosis). Women with this disorder do not produce eggs (ova), but they may be able to become pregnant with a donated egg or embryo.Swyer syndrome usually affects only sexual development; such cases are called isolated Swyer syndrome. However, depending on the genetic cause, Swyer syndrome may also occur along with health conditions such as nerve problems (neuropathy) or as part of a syndrome such as campomelic dysplasia, which causes severe skeletal abnormalities.
[from GHR]

MedGen UID:
414114
Concept ID:
C2751824
Disease or Syndrome
11.

Neoplasm of ovary

Ovarian cancer, the leading cause of death from gynecologic malignancy, is characterized by advanced presentation with loco-regional dissemination in the peritoneal cavity and the rare incidence of visceral metastases (Chi et al., 2001). These typical features relate to the biology of the disease, which is a principal determinant of outcome (Auersperg et al., 2001). Epithelial ovarian cancer is the most common form and encompasses 5 major histologic subtypes: papillary serous, endometrioid, mucinous, clear cell, and transitional cell. Epithelial ovarian cancer arises as a result of genetic alterations sustained by the ovarian surface epithelium (Stany et al., 2008; Soslow, 2008). [from OMIM]

MedGen UID:
181539
Concept ID:
C0919267
Neoplastic Process
12.

Germinoma

A type of undifferentiated germ cell tumor that may be benign or malignant. [from HPO]

MedGen UID:
64626
Concept ID:
C0206660
Neoplastic Process
13.

Disorder of ovary

The ovaries are a pair of organs that women have. They are located in the pelvis, one on each side of the uterus. Each ovary is about the size and shape of an almond. The ovaries produce a woman's eggs. If an egg is fertilized by a sperm, a pregnancy can result. Ovaries also make the female hormones estrogen and progesterone. When a woman goes through menopause, her ovaries stop releasing eggs and make far lower levels of hormones. Problems with the ovaries include. -Ovarian cancer. -Ovarian cysts and polycystic ovary syndrome. -Premature ovarian failure. -Ovarian torsion, a twisting of the ovary.  [from MedlinePlus]

MedGen UID:
45256
Concept ID:
C0029928
Disease or Syndrome
14.

Genitourinary neoplasm

A tumor (abnormal growth of tissue) of the genitourinary system. [from HPO]

MedGen UID:
22583
Concept ID:
C0042065
Neoplastic Process
15.

Sex Differentiation Disorders

Abnormalities in the development of the GONADS, the genital tracts, the external GENITALIA, and gender-specific behavior. [from MeSH]

MedGen UID:
20725
Concept ID:
C0036875
Congenital Abnormality; Disease or Syndrome
16.

Gonadal dysgenesis, male

46,XY disorder of sex development (46,XY DSD) is characterized by a 46,XY karyotype, ambiguous genitalia with mild to severe penoscrotal hypospadias with or without chordee, dysgenetic testes, reduced to no sperm production, and müllerian structures that range from absent to presence of a fully developed uterus and fallopian tubes. 46,XY complete gonadal dysgenesis (46,XY CGD) is characterized by a 46,XY karyotype, normal female external genitalia, completely undeveloped (”streak”) gonads, no sperm production, and presence of normal müllerian structures. [from GeneReviews]

MedGen UID:
5361
Concept ID:
C0018054
Congenital Abnormality; Disease or Syndrome
17.

Disorder of endocrine system

Your endocrine system includes eight major glands throughout your body. These glands make hormones. Hormones are chemical messengers. They travel through your bloodstream to tissues or organs. Hormones work slowly and affect body processes from head to toe. These include. -Growth and development. -Metabolism - digestion, elimination, breathing, blood circulation and maintaining body temperature . -Sexual function. -Reproduction. -Mood. If your hormone levels are too high or too low, you may have a hormone disorder. Hormone diseases also occur if your body does not respond to hormones the way it is supposed to. Stress, infection and changes in your blood's fluid and electrolyte balance can also influence hormone levels. In the United States, the most common endocrine disease is diabetes. There are many others. They are usually treated by controlling how much hormone your body makes. Hormone supplements can help if the problem is too little of a hormone.  [from MedlinePlus]

MedGen UID:
4043
Concept ID:
C0014130
Disease or Syndrome
18.

Gonadal dysgenesis, male

Unusual gonadal development in a person with a 46,XY male karyotype, leading to an unassigned sex differentiation. [from HPO]

MedGen UID:
446948
Concept ID:
CN007626
Finding
19.

Puberty and gonadal disorders

MedGen UID:
446922
Concept ID:
CN007366
Finding
20.

Absent gonadal tissue

MedGen UID:
428839
Concept ID:
CN007596
Finding
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