Estrogen insensitivity syndromeEstrogen insensitivity syndrome (EIS), or estrogen resistance, is a form of congenital estrogen deficiency or hypoestrogenism which is caused by a defective estrogen receptor (ER) – specifically, the estrogen receptor alpha (ERα) – that results in an inability of estrogen to mediate its biological effects in the body. Congenital estrogen deficiency can alternatively be caused by a defect in aromatase, the enzyme responsible for the biosynthesis of estrogens, a condition which is referred to as aromatase deficiency and is similar in symptomatology to EIS.
Complete androgen insensitivity syndromeComplete 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.
Partial androgen insensitivity syndromePartial androgen insensitivity syndrome (PAIS) is a condition that results in the partial inability of the cell to respond to androgens. It is an X linked recessive condition. The partial unresponsiveness of the cell to the presence of androgenic hormones impairs the masculinization of male genitalia in the developing fetus, as well as the development of male secondary sexual characteristics at puberty, but does not significantly impair female genital or sexual development.
HypogonadismeL'hypogonadisme est un syndrome clinique résultant d'une altération de l'axe hypothalo-hypophyso-gonadique. Il est qualifié de primaire lorsqu'il atteint les gonades (hypogonadisme hypergonadotrope) ou secondaire lorsqu'il atteint le système central (hypogonadisme hypogonadotrope). Il peut être congénital ou acquis. Retard pubertaire ou développement sexuel incomplet. Chez l'homme : atrophie musculaire, baisse de la force musculaire, baisse de libido, micropénis, dysfonction érectile, gynécomastie, irritabilité, dépression, troubles du sommeil.
AndrostanoloneLandrostanolone, ou dihydrotestostérone (DHT), est un métabolite biologiquement actif de la testostérone, formé dans la prostate, les testicules, les follicules pileux et les glandes surrénales sous l'action d’une enzyme, la 5-α-réductase, par réduction de la liaison Δ(4,5). L’androstanolone est une hormone androgène. Elle est responsable de la différenciation des organes génitaux externes en testicules à partir de la septième semaine du développement de l'embryon humain.
PseudohermaphrodismeLes pseudohermaphrodismes se distinguent par des atypicités de la différenciation sexuelle. Il ne faut pas les confondre avec l'hermaphrodisme qui voit cohabiter chez un même individu les deux types d'organes génitaux (masculin et féminin). La présence de signes virils avec une hypertrophie du clitoris est constatée (chez sujet XX). Un possible traitement hormonal substitutif voire de la chirurgie constituent l'attitude adoptée la plus fréquemment face à cette atypicité sans gravité (possibilité de grossesse normale).
Aromatase deficiencyAromatase deficiency is a rare condition characterized by extremely low levels or complete absence of the enzyme aromatase activity in the body. It is an autosomal recessive disease resulting from various mutations of gene CPY19 (P450arom) which can lead to ambiguous genitalia and delayed puberty in females, continued linear growth into adulthood and osteoporosis in males and virilization in pregnant mothers. As of 2020, fewer than 15 cases have been identified in genetically male individuals and at least 30 cases in genetically female individuals.
Female infertilityFemale infertility refers to infertility in women. It affects an estimated 48 million women, with the highest prevalence of infertility affecting women in South Asia, Sub-Saharan Africa, North Africa/Middle East, and Central/Eastern Europe and Central Asia. Infertility is caused by many sources, including nutrition, diseases, and other malformations of the uterus. Infertility affects women from around the world, and the cultural and social stigma surrounding it varies.
HypospadiasL’ est une malformation congénitale et une variation du développement sexuel qui se manifeste par l'ouverture de l'urètre dans la face inférieure du pénis au lieu de son extrémité (ou plus rarement, à l'intérieur du vagin). Lorsqu'elle apparaît sur la face supérieure on parle d'épispadias. Affectant, selon les études, entre une et huit naissances masculines pour , ce type de malformation semble en augmentation , comme d'autres malformations génitales.
MethyltestosteroneMethyltestosterone, sold under the brand names Android, Metandren, and Testred among others, is an androgen and anabolic steroid (AAS) medication which is used in the treatment of low testosterone levels in men, delayed puberty in boys, at low doses as a component of menopausal hormone therapy for menopausal symptoms like hot flashes, osteoporosis, and low sexual desire in women, and to treat breast cancer in women. It is taken by mouth or held in the cheek or under the tongue.
