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Primary Amenorrhea
Amenorrhea or amenorrhoea is the absence of a menstrual period in a female organism who has reached reproductive age. Physiological states of amenorrhoea are most commonly seen during pregnancy and lactation (breastfeeding). In humans, it is where a woman or girl who has reached reproductive age who is not on birth control does not menstruate. Amenorrhoea is a symptom with many potential causes. Primary amenorrhea is defined as an absence of secondary sexual characteristics by age 13 with no menarche or normal secondary sexual characteristics but no menarche by 15 years of age. It may be caused by developmental problems, such as the congenital absence of the uterus, failure of the ovary to receive or maintain egg cells, or delay in pubertal development. Secondary amenorrhoea, ceasing of menstrual cycles after menarche, is defined as the absence of menses for three months in a woman with previously normal menstruation, or six months for women with a history of oligomenorrhoea. It ...
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Gynecology
Gynaecology or gynecology (see American and British English spelling differences) is the area of medicine concerned with conditions affecting the Female reproductive system, female reproductive system. It is often paired with the field of obstetrics, which focuses on pregnancy and childbirth, thereby forming the combined area of obstetrics and gynaecology (OB-GYN). Gynaecology encompasses both Primary care, primary and Preventive healthcare, preventative care of issues related to female reproduction and sexual health, such as the uterus, vagina, fallopian tubes, ovaries, and breasts; subspecialties include family planning; minimally invasive surgery; pediatric and adolescent gynecology; and pelvic medicine and reconstructive surgery. While gynaecology has traditionally centered on Cisgender, cisgender women, it increasingly encompasses anyone with female organs, including transgender, intersex, and Non-binary gender, nonbinary individuals; however, many non-cis women face acce ...
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Gonadotropin-releasing Hormone
Gonadotropin-releasing hormone (GnRH) is a releasing hormone responsible for the release of follicle-stimulating hormone (FSH) and luteinizing hormone (LH) from the anterior pituitary. GnRH is a tropic peptide hormone synthesized and released from GnRH neurons within the hypothalamus. GnRH is inhibited by testosterone. The peptide belongs to gonadotropin-releasing hormone family. It constitutes the initial step in the hypothalamic–pituitary–gonadal axis. Structure The identity of GnRH was clarified by the 1977 Nobel Laureates Roger Guillemin and Andrew V. Schally: pyroGlu-His-Trp-Ser-Tyr-Gly-Leu-Arg-Pro-Gly-NH2 As is standard for peptide representation, the sequence is given from amino terminus to carboxyl terminus; also standard is omission of the designation of chirality, with assumption that all amino acids are in their L- form. The abbreviations are the standard abbreviations for the corresponding proteinogenic amino acids, except for ''pyroGlu'', whic ...
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Mixed Gonadal Dysgenesis
45,X/46,XY mosaicism, also known as X0/XY mosaicism and mixed gonadal dysgenesis, is a mutation of sex development in humans associated with sex chromosome aneuploidy and mosaicism of the Y chromosome. It is a fairly rare chromosomal disorder at birth, with an estimated incidence rate of about 1 in 15,000 live births. Mosaic loss of the Y chromosome in previously non-mosaic men grows increasingly common with age. The clinical manifestations are highly variable, ranging from partial virilisation and ambiguous genitalia at birth, to patients with completely male or female gonads. Most individuals with this karyotype have apparently normal male genitalia, and a minority have female genitalia, with a significant number of individuals showing genital abnormalities or mixed sex characteristics. A significantly higher than average number of other developmental abnormalities are also found in individuals with X0/XY mosaicism. Psychomotor development is normal. Signs and symptoms ...
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17β-hydroxysteroid Dehydrogenase Deficiency
A hydroxysteroid is a molecule derived from a steroid with a hydrogen replaced with a hydroxy group. When the hydroxy group is specifically at the C3 position, hydroxysteroids are referred to as sterols, with an example being cholesterol Cholesterol is the principal sterol of all higher animals, distributed in body Tissue (biology), tissues, especially the brain and spinal cord, and in Animal fat, animal fats and oils. Cholesterol is biosynthesis, biosynthesized by all anima .... See also * Hydroxysteroid dehydrogenase * Ketosteroid External links * Alcohols Steroids {{steroid-stub ...
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Pure Gonadal Dysgenesis
Gonadal dysgenesis is classified as any congenital developmental disorder of the reproductive system characterized by a progressive loss of primordial germ cells on the developing gonads of an embryo. One type of gonadal dysgenesis is the development of functionless, fibrous tissue, termed streak gonads, instead of reproductive tissue. Streak gonads are a form of aplasia, resulting in hormonal failure that manifests as sexual infantism and infertility, with no initiation of puberty and secondary sex characteristics. Gonadal development is a process, which is primarily controlled genetically by the chromosomal sex ( XX or XY), which directs the formation of the gonad (ovary or testicle). Differentiation of the gonads requires a tightly regulated cascade of genetic, molecular and morphogenic events. At the formation of the developed gonad, steroid production influences local and distant receptors for continued morphological and biochemical changes. This results in the phenoty ...
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Complete Androgen Insensitivity Syndrome
Complete androgen insensitivity syndrome (CAIS) is an AIS condition that results in the complete inability of the cell to respond to androgens. As such, the insensitivity to androgens is only clinically significant when it occurs in individuals who are exposed to significant amounts of testosterone at some point in their lives. The unresponsiveness of the cell to the presence of androgenic hormones prevents the masculinization of male genitalia in the developing fetus, as well as the development of male secondary sexual characteristics at puberty, but does allow, without significant impairment, female genital and sexual development in those with the condition. All human fetuses begin fetal development looking similar, with both the Müllerian duct system (female) and the Wolffian duct system (male) developing. Sex differentiation begins with the gonads, which in XX individuals become ovaries, and in XY individuals (including those with CAIS) typically become testicles due t ...
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Turner Syndrome
Turner syndrome (TS), commonly known as 45,X, or 45,X0,Also written as 45,XO. is a chromosomal disorder in which cells of females have only one X chromosome instead of two, or are partially missing an X chromosome (sex chromosome monosomy) leading to the complete or partial deletion of the pseudoautosomal regions (PAR1, PAR2) in the affected X chromosome. Typically, people have two sex chromosomes (XX for females or XY for males). The chromosomal abnormality is often present in just some cells, in which case it is known as Turner syndrome with mosaicism. 45,X0 with mosaicism can occur in males or females, but Turner syndrome without mosaicism only occurs in females. Signs and symptoms vary among those affected but often include additional skin folds on the neck, arched palate, low-set ears, low hairline at the nape of the neck, short stature, and lymphedema of the hands and feet. Those affected do not normally develop menstrual periods or mammary glands without hormone trea ...
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Müllerian Agenesis
Müllerian may refer to: * Müllerian mimicry, a type of mimicry or convergence named after Fritz Müller * Müllerian ducts, which enter the cloaca of an embryo (named after Johannes Peter Müller) * Mullerian anomalies are structural anomalies caused by errors in embryonic müllerian duct development * Mixed Müllerian tumor {{Disambiguation ...
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Pubarche
Pubarche () refers to the first appearance of pubic hair at puberty. It is one of the earliest physical changes of puberty and can occur independently of complete puberty. It is usually the second sign of puberty, after thelarche in females and gonadarche in males (though in females, it can also happen before thelarche, but this is less common). The early stage of sexual maturation, also known as adrenarche, is marked by characteristics including the development of pubic hair, Underarm hair, axillary hair, Body odor, adult apocrine body odor, acne, and increased oiliness of hair and skin. The Encyclopedia of Child and Adolescent Health corresponds SMR2 (sexual maturity rating) with pubarche, defining it as the development of pubic hair that occurs at a mean age of 11.6 years in females (range 9.3–13.9 years) and 12.6 years in males (range 10.7–14.5 years). It further describes that pubarche's physical manifestation is Vellus hair, vellus hair over the labia or the base of the pe ...
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Thelarche
Thelarche, also known as breast budding, is the onset of secondary breast development, often representing the beginning of pubertal development. It is the stage at which male and female breasts differentiate due to variance in hormone levels; however, some males have a condition in which they develop breasts, termed gynecomastia. Thelarche typically occurs between the ages of 8 and 13 years with significant variation between individuals. However, the initial growth of breast tissue occurs during fetal development. It is usually the first sign of puberty in females (less commonly, it can be the second sign, after pubarche). Usually, females experience menarche about two years after thelarche has begun, with complete breast development from thelarche to adult breasts, taking between 2 and 4 years but can last up to age 18. Moreover, puberty is considered delayed if breast development does not start at age 13 or if a female has not had her first period (menarche) within three years of ...
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