Glossary for Infertility

• $47,XXX syndrome$: A genetic condition where females have an extra X chromosome in each of their cells. Normally female cells have two X chromosomes. This is not usually an inherited condition but a defect that occurs during cell division. Often the condition is asymptomatic.
• Abdominal Cancer: Growth of abnormal cells (tumour) affecting the organs in the abdominal cavity; may be due to primary growth of a tumour or spread from another tumour (metastases, secondary tumour)
• Adolescent cataract and infertility syndrome: A rare syndrome characterized mainly by cataracts and infertility in male adolescents.
• Adrenal Cancer: A malignant cancer that develops in the adrenal gland. The tumor may be nonfunctioning (does not produce hormones) or functioning in which case excessive levels of hormones can cause a variety of symptoms depending on which hormone is involved. Adrenal hormones made in the cortex (outer part of the gland) are aldosterone, corticosteroids and androgenic steroids. Adrenalin and noradrenalin are the hormones made in the medulla (central part of the adrenal gland).
• Adrenal adenoma, familial: A benign tumor that develops in the adrenal gland and tends to run in families. The tumor may be nonfunctioning (does not produce hormones) or functioning in which case excessive levels of hormones can cause a variety of symptoms depending on which hormone is involved. Adrenal hormones made in the cortex (outer part of the gland) are aldosterone, corticosteroids and androgenic steroids . Adrenalin and noradrenalin are the hormones made in the medulla (central part of the adrenal gland).
• Adrenal gland hyperfunction: Excessive activity of the adrenal gland which causes excessive production of one or more adrenal hormones (aldosterone, corticosteroids, androgenic steroids, epinephrine and norepinephrine). The increased adrenal gland activity may be caused by an adrenal gland tumor or by excessive stimulation of the gland. Pituitary hormones stimulate adrenal gland activity.
• Adrenal hyperplasia, congenital type 3: A group of disorders that occur when a deficiency of 21-hydroxylase impairs the normal process of making adrenal corticosteroids. The severity of the condition is variable depending on the degree of deficiency.
• Adrenal hypoplasia congenital, X-linked: A genetic disorder which affects the body tissues that produce hormones. It is characterized by underdeveloped adrenal glands which results adrenal insufficiency and hypogonadotrophic hypogonadism.
• Adrenal incidentaloma: A tumor of the adrenal gland that is discovered incidentally while performing an imaging examination for reasons other than an adrenal tumor. The tumor may be asymptomatic or can causes excessive secretion of adrenal hormones and resulting symptoms. The tumor may also be malignant or benign.
• Adrenocortical carcinoma: A condition which is characterized by malignancy which affects the adrenocortex.
• Ahumada-Del Castillo Syndrome: A rare endocrine disorder characterized by dysfunction of the pituitary and hypothalamus glands in women.
• Androgen Insensitivity Syndrome: Females with male XY genetics but inability to respond to testosterone.
• Androgen insensitivity syndrome, partial: A rare inherited condition where males are partially insensitive to the male hormones which results in varying degrees of feminization. The effect of the condition can range from the presence of normal female sexual characteristics to normal male sexual characteristics or a combination of both.
• Anorchia: A congenital abnormality where one or both testes are missing at birth.
• Anorchidia: A rare birth defect where the testes are absent. The testes may regress at any stage of fetal development. The stage of fetal growth at which the testes regress will affect the presentation of the disorder at birth. The presentation at birth may range from varying degrees of genital ambiguity with streak gonads.
• Anovulation: Failure to ovulate
• Anterior pituitary hyperhormonotrophic syndrome: A syndrome characterized by the excessive production of various hormones (gonadotrophic, thyrotrophic, lactotrophic and pancreatrophic hormone).
• Appendiceal tumor: A tumor of the appendix. The condition is often misdiagnosed as acute appendicitis. The cancer usually metastasizes from other sites and rarely starts in the appendix.
• Appendix cancer: Cancer of the appendix. The cancer usually metastasizes from other sites and rarely starts in the appendix.
• Aromatase deficiency: A congenital deficiency of the enzyme called aromatase which is needed to convert androgens to estrogens.
• Autoimmune Endometriosis: An endometriosis that is caused by an autoimmune reaction
• Azoospermia: Total lack of sperm in ejaculate
• Bladder Cancer: Cancer of the bladder.
• Bronchiectasis - oligospermia: A rare syndrome characterized by the association of bronchiectasis (enlarged bronchial airways) and a defect in the sperm ducts which affects the number of sperm produced. Patients suffer frequent bacterial infections.
• Calloso-genital dysplasia: A rare syndrome characterized by the total absence of the brain structure that connects the two halves of the brain (corpus callosum) as well as absent menstruation and coloboma.
• Cervicitis: Inflammation of the cervix
• Chlamydia: Common sexually transmitted disease often without symptoms.
• Chronic Kidney Disease: Long-term and generally irreversible disease of the kidneys due to infection, obstruction, congenital diseases or generalised diseases causing failure of the kidneys' normal functions.
• Congenital adrenal hyperplasia - simple virilizing form in females: A group of disorder that occur when a deficiency of 21-hydroxylase impairs the normal process of making adrenal corticosteroids. The simple virilizing form involves a moderate deficiency of 21-hydroxylase and differs in its effects on males and females.
• Congenital bilateral aplasia of vas deferens: A birth defect where the tubes that carry sperm from the testes to the penis don't develop.
• Cystic Fibrosis: A rare genetic disease characterized by the production of thick secretions from the lung lining due to respiratory system damage.
• Cystic fibrosis - gastritis - megaloblastic anaemia: A rare syndrome characterized mainly by cystic fibrosis, metaloblastic anemia, mental retardation and gastritis due to helicobacter pylori.
• Del Castillo's syndrome: Infertility due to absence of germinal cells which are needed to make sperm.
• Diethylstilbestrol antenatal infection: A very rare syndrome characterized mainly caused by exposure to diethylstilbestrol (used to prevent complications during pregnancy such as miscarriage and prematurity) during pregnancy
• Dysmenorrhea: Pain, cramping, or discomfort due to menstruation
• Ectodermal dysplasia, Berlin type: A rare syndrome characterized mainly by the absence of many or all teeth, a lack of hair, mental retardation and skin abnormalities.
• Ectopic pregnancy: A condition where a fertilized egg embeds itself outside the uterus.
• Endometrial conditions: Conditions that affect the female endometrium that is located in the uterus
• Endometriosis: Misplaced uterus tissue causing scar tissue.
• Fallopian tube conditions: Conditions that affect the fallopian tubes of a woman
• Female genital disorders: Any condition affecting the female genital organs.
• Female infertility: Infertility that affects the female
• Female pseudohermaphrodism - anorectal anomalies: A very rare disorder characterized by ambiguous external genitals and anal and rectal anomalies.
• Follicle-stimulating hormone deficiency, isolated: A genetic disorder characterized by the deficiency of follicle-stimulating hormone which primarily affects fertility.
• Fowler-Christmas-Chapple syndrome: A rare syndrome characterized by the association of polycystic ovaries with the abnormal functioning of the urinary valve.
• Gelatinous ascites: A large abdominal cyst filled with gelatinous or mucous fluid. It is often caused by a mucous-producing abdominal cancer.
• Gonadal dysgenesis: The abnormal development of gonads which means that the sex hormones are not being produced. The gonads are the primary reproductive organs - testes in males and ovaries in females. These organs produced sperm and eggs as well as sex hormones - testes produce the male hormone called testosterone and ovaries produce the female hormone called estrogen. Abnormal gonad development and hence lack of sex hormones can affect sexual differentiation between males and females and puberty may be delayed or fail to occur altogether.
• Gonadal dysgenesis Turner type: The abnormal development of gonads that occurs in Turner syndrome due to a chromosomal abnormality. It occurs when the there is only one fully functioning X chromosome instead of two which results in underdeveloped female characteristics. The severity of symptoms is determined by how much of the second sex chromosome is missing.
• Granulomatous hypophysitis: A rare disorder caused by the inflammation of the pituitary gland. It can occur as a result of other infections such as tuberculosis and sarcoidosis.
• Gynaecological conditions: Any condition the affects the female reproductive organs
• HAIR-AN Syndrome: A very rare syndrome that affects females only and is characterized mainly by insulin resistance, dark velvety patches of skin and increased male hormone production in females.
• Hashimoto's Thyroiditis: Autoimmune disease causing deficient thyroid hormone (hypothyroidism).
• Heller-Nelson syndrome: A variant of Klinefelter syndrome (extra X chromosome in most cells) involving a range of abnormalities.
• Hermaphroditism: A very rare genetic disorder where a baby is born having both male and female internal sex organs.
• Hyperadrenalism: Excessive levels of adrenal hormones in the body. Symptoms depend on which hormone is involved and the degree of involvement. Adrenal hormones are aldosterone, corticosteroids, androgenic steroids, epinephrine and norepinephrine.
• Hyperandrogenism: Excessive levels of androgen (male sex hormones) that can occur in males and females.
• Hyperprolactinemia: High levels of prolactin in the blood.
• Hypogonadism, isolated, hypogonadotropic: A rare condition involving a deficiency of sex hormones (leutinizing and follicle-stimulating hormone) which results in partial or complete failure of puberty.
• Hypogonadotropic hypogonadism without anosmia, X-linked: A rare X-linked disorder involving a deficiency of sex hormones (leutinizing and follicle-stimulating hormone). It is similar to Kallman syndrome but the sense of smell is preserved.
• Hypoparathyroidism X-linked: Low parathyroid levels inherited in a X-linked manner and hence only males are symptomatic and females are asymptomatic carriers.
• Hypopituitarism: A disorder caused by reduced pituitary hormone levels. Hormones produce by the pituitary gland produces growth hormones, prolactin, thyroid stimulating hormone, antidiuretic hormone and others.
• Hypothyroidism: Too little thyroid hormone production.
• Hysterectomy: The surgical removal of the female uterus
• Kallmann Syndrome: A rare inherited condition characterized by hypogonadism, eunuchoidism and impaired or absent sense of smell. The condition occurs as a result of failure of a part of the hypothalamus which results in hormonal imbalance.
• Kallmann syndrome 2: A rare inherited condition characterized by hypogonadism and impaired or absent sense of smell. The condition occurs as a result of failure of a part of the hypothalamus which results in hormonal imbalance. Type 2 is caused by a genetic defect located at chromosome 8p11.2-p11.1.
• Kallmann syndrome, type 1, X-linked: A rare inherited condition characterized by hypogonadism and impaired or absent sense of smell. The condition occurs as a result of failure of a part of the hypothalamus which results in hormonal imbalance. Type 1 is caused by a genetic defect located at chromosome Xp22.3.
• Kallmann syndrome, type 3, recessive: A rare inherited condition characterized by hypogonadism and impaired or absent sense of smell. The condition occurs as a result of failure of a part of the hypothalamus which results in hormonal imbalance. Type 3 is recessively inherited and the genetic defect is located at chromosome 20p13.
• Kallmann syndrome, type 4: A rare inherited condition characterized by hypogonadism and impaired or absent sense of smell. The condition occurs as a result of failure of a part of the hypothalamus which results in hormonal imbalance. Type 4 is caused by a genetic defect located at chromosome 3p21.1.
• Klinefelter syndrome: A genetic condition where males have at least one extra X chromosome or extra copies of both the X and Y chromosomes in each cell. Normally male cells contain one X and one Y chromosome in each cell. The condition is not inherited but is a result of problems during cell division. Klinefelter syndrome variants is a more severe form of the condition as it involves more than one extra X or X and Y chromosome in each cell.
• Klinefelter syndrome, variants: A genetic condition where males have at least one extra X chromosome or extra copies of both the X and Y chromosomes in each cell. Normally male cells contain one X and one Y chromosome in each cell. The condition is not inherited but is a result of problems during cell division.
• Lactotroph adenoma: A benign pituitary tumor that secretes excessive prolactin which can affect the functioning of the reproductive system - testes and ovaries. The tumor may also grow large enough to compress adjacent structures such as the eye nerves.
• Lead poisoning: A type of heavy metal poisoning caused by excessive exposure to lead.
• Lipoid congenital adrenal hyperplasia: A rare form of congenital adrenal hyperplasia where the early phase of adrenal cortisol production is defective which causes mineralocorticoid deficiency. Male pseudohermaphroditism is the main characteristic of this disorder.
• Luteinizing hormone releasing hormone, deficiency of, with ataxia: A very rare syndrome characterized mainly by insufficient sex hormone production and impaired balance and coordination due to nervous system dysfunction.
• Male infertility: The inability of the male to reproduce
• Male reproductive toxicity - 1,2-Dibromo-3-Chloropropane (DBCP): Exposure to 1,2-Dibromo-3-Chloropropane (DBCP), a recognized reproductive toxicant, can negatively affect the male reproductive system. 1,2-Dibromo-3-Chloropropane (DBCP) is used mainly as an ingredient in pesticides such as Fumazone and Nemagon. The severity and nature of the adverse effect is variable and can be influenced by factors such as level of exposure and individual sensitivity to the chemical. Effects on the male reproductive system can include such things as altered sexual behavior, altered fertility and problems with sperm shape or count.
• Marijuana abuse: Illicit depressant/hallucinogenic drug
• Muckle-Wells syndrome: An inherited condition characterized by amyloidosis (protein deposits), deafness, hives and limb pain.
• Mullerian derivatives, persistent: A very rare syndrome where a genetic defect results in the development of female organs in an otherwise normal male. The genetic defect causes a hormone deficiency (anti-mullerian hormone) which allows mullerian derivates, such as a uterus, to form in males.
• Non-Specific Urethritis: Urethral infection usually sexually transmitted
• Ovarian insufficiency due to FSH resistance: A rare disorder where the ovaries fail to function normally as they are unable to respond to follicle stimulating hormones.
• Ovarian insufficiency, familial: A rare inherited disorder where the ovaries fail to function normally despite normal levels of hormones that stimulate ovarian activity. Ovarian failure is a normal phase of aging and is associated with menopause but it is termed ovarian insufficiency when it occurs in a female under the age of 40.
• Panhypopituitarism: A rare condition where all pituitary hormones are absent or reduced. The condition may be congenital or acquired through such things as pituitary tumors. The pituitary gland regulates the activity of other endocrine glands as well as controlling growth. Other endocrine glands include adrenal, parathyroid, thyroid, pancreas, ovaries and testes. Symptoms can vary greatly depending on the degree of deficiency of the various hormones.
• Polycystic ovarian disease, familial: A rare familial condition characterized by menstrual abnormalities, excessive growth of hair, obesity and infertility.
• Polycystic ovary syndrome: Multiple ovary cysts causing various hormonal, menstrual and fertility problems.
• Prolactinoma, familial: A pituitary tumor that secretes prolactin and occurs in a familial pattern of inheritance. The tumor is benign but can cause symptoms due to high prolactin levels or compression of the optic nerve.
• Proximal myotonic dystrophy: A very rare genetic muscle disorder which is often associated with cataracts, abnormal heart rhythm and infertility. Muscle weakness tends to occur more in muscles closer to the trunk such as the neck, shoulders, hips and upper legs. Pregnancy can exacerbate or initiate symptoms.
• Pseudohermaphrodism - anorectal anomalies: A very rare disorder characterized by ambiguous external genitals and anal and rectal anomalies.
• Radiation sickness: Illness from radiation exposure or cancer radiotherapy.
• Resistance to LH (luteinizing hormone): A genetic abnormality where the body is unable to respond to luteinizing hormone which affects ovarian and testicular function.
• Retinohepatoendocrinologic syndrome: A rare inherited disorder characterized mainly by eye, liver and endocrine function abnormalities.
• Rokitansky-Küster-Haüser syndrome: A rare condition characterized by absence of the vagina and uterine abnormalities.
• Salpingitis: Inflammation of the fallopian tubes
• Sexual Conditions: Any condition that affects sexual function
• Sexual aversion disorder: The feelings of disgust and distress for and avoidance of genital sexual contact with another person
• Sexual dysfunction: Any dysfunction of sexual activity
• Spermatogenesis arrest: A rare, usually genetic disorder involving abnormal sperm development and resulting in infertility. Hormonal and toxic causes can be treated and fertility restored.
• Subfertility: The diminished ability to reproduce
• Swyer syndrome: A rare disorder where a female has all the normal external femal characteristics but has non-functioning gonads. This means that none sex hormones needed for puberty are produced.
• Triple-X syndrome: A condition that is characterised by the occurrence of three X chromosomes
• Turner Syndrome: Rare chromosome syndrome with one X but no second X or Y chromosome.
• Uterine fibroids: Benign nodules in the uterus wall.
• Weinstein Kliman Scully syndrome: A syndrome that is characterised by cardiomyopathy, hypogonadism and metablic anomalies
• Wilson's Disease: Genetic disorder that causes copper to build up in the body's organs.
• Winkelman Bethfe Pfeiffer syndrome: A syndrome that is characterised by sensorineural deafness and pituitary dwarfism
• XX male syndrome: A sex chromosome disorder in males which affects gonadal development and causes infertility. Males have XX chromosomes instead of the normal XY.
• Young Hughes syndrome: A sex linked condition that is characterised by mental retardation and hypogonadism
• Young syndrome: Symptoms in a fetus that occur when the mother is suffering from advanced diabetes mellitus during pregnancy.

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