Follicle-stimulating hormone insensitivity

It is characterized by a resistance or complete insensitivity to the effects of follicle-stimulating hormone (FSH), a gonadotropin which is normally responsible for the stimulation of estrogen production by the ovaries in females and maintenance of fertility in both sexes.The condition manifests itself as hypergonadotropic hypogonadism (decreased or lack of production of sex steroids by the gonads despite high circulating levels of gonadotropins), reduced or absent puberty (lack of development of secondary sexual characteristics, resulting in sexual infantilism if left untreated), amenorrhea (lack of menstruation), and infertility in females, whereas males present merely with varying degrees of infertility and associated symptoms (e.g., decreased sperm production).[1][2] A related condition is luteinizing hormone (LH) insensitivity (termed Leydig cell hypoplasia when it occurs in males), which presents with similar symptoms to those of FSH insensitivity but with the symptoms in the respective sexes reversed (i.e., hypogonadism and sexual infantilism in males and merely problems with fertility in females).[1][2][3] Due in part to elevated LH levels, which stimulate androgen production by theca cells in the ovaries, and due in part to FSH insensitivity, resulting in a lack of aromatase in nearby granulosa cells that normally convert androgens into estrogens, it could be expected that females with FSH insensitivity might present with symptoms of hyperandrogenism at puberty.[citation needed] FSH insensitivity presents itself in females as two clusters of symptoms: 1) hypergonadotropic hypogonadism or hypoestrogenism, resulting in a delayed, reduced, or fully absent puberty and associated sexual infantilism (if left untreated), reduced uterine volume, and osteoporosis; and 2) ovarian dysgenesis or failure, resulting in primary or secondary amenorrhea, infertility, and normal sized to slightly enlarged ovaries.

autosomal recessivegeneticendocrinesyndromefollicle-stimulating hormonegonadotropinestrogenovariesfertilityhypergonadotropic hypogonadismsex steroidsgonadsreduced or absent pubertysecondary sexual characteristicssexual infantilismamenorrheamenstruationinfertilitysperm productionluteinizing hormone (LH) insensitivityLeydig cell hypoplasiafeminized or ambiguous genitaliainhibin Btestosteronetheca cellsaromatasehyperandrogenismparacrine factorsandrostenedioneestradiolhypoestrogenismuterine volumeosteoporosisovarian dysgenesisfailuretesticular volumeoligozoospermiaspermatogenesismutationsfollicle-stimulating hormone receptorgranulosa cellsovarian folliclesmenstrual cyclesSertoli cellsseminiferous tubulestesticlesHormone replacement therapyHypogonadismGonadal dysgenesispremature ovarian failureGonadotropin-releasing hormone insensitivityInborn errors of steroid metabolismIsolated 17,20-lyase deficiencyCombined 17α-hydroxylase/17,20-lyase deficiency17β-Hydroxysteroid dehydrogenase III deficiencyAromatase deficiencyestrogen insensitivity syndromePituitary diseaseHyperpituitarismAcromegalyHyperprolactinaemiaPituitary ACTH hypersecretionNelson's syndromeHypophysitisHypopituitarismKallmann syndromeGrowth hormone deficiencyIsolated growth hormone deficiencyHypoprolactinemiaACTH deficiencySecondary adrenal insufficiencyGnRH insensitivityLH/hCG insensitivityCentral diabetes insipidusEmpty sella syndromePituitary apoplexySheehan's syndromeLymphocytic hypophysitisPituitary adenomaGenetic disorderstranscription factorFeingold syndromeSaethre–Chotzen syndromeTietz syndromeIntracellular receptorThyroid hormone resistanceAndrogen insensitivity syndromeKennedy's diseasePHA1AD pseudohypoaldosteronismX-linked adrenal hypoplasia congenitaMODY 1Familial partial lipodystrophy 3SF1 XY gonadal dysgenesisBarakat syndromeTricho–rhino–phalangeal syndromeGreig cephalopolysyndactyly syndromePallister–Hall syndromeDenys–Drash syndromeDuane-radial ray syndromeMODY 7MRX 89Townes–Brocks syndromeAcrocallosal syndromeMyotonic dystrophy 2Autoimmune polyendocrine syndrome type 1Ohtahara syndromeLissencephaly X2Currarino syndromeHOXD13SPD1 synpolydactylyMODY 4Nail–patella syndromeTooth and nail syndromeAxenfeld syndrome 1POU4F3DFNA15POU3F4Posterior polymorphous corneal dystrophyFuchs' dystrophy 3Mowat–Wilson syndromePapillorenal syndromeWaardenburg syndrome 1&3MODY 9Gillespie syndromeColoboma of optic nerveCongenital hypothyroidism 2STHAG3Axenfeld syndrome 3Iridogoniodysgenesis, dominant typeLymphedema–distichiasis syndromeBamforth–Lazarus syndromeAnterior segment mesenchymal dysgenesisACD/MPVEnlarged vestibular aqueductPremature ovarian failure 3Van der Woude syndromePopliteal pterygium syndromeHyperimmunoglobulin E syndromeHolt–Oram syndromeLi–Fraumeni syndromeUlnar–mammary syndromeCampomelic dysplasiaMODY 3MODY 5SRY XY gonadal dysgenesisPremature ovarian failure 7Waardenburg syndrome 4cYemenite deaf-blind hypopigmentation syndromeCleidocranial dysostosisKabuki syndromePitt–Hopkins syndromeRapp–Hodgkin syndromeHay–Wells syndromeEctrodactyly–ectodermal dysplasia–cleft syndrome 3Limb–mammary syndromeTranscription coregulatorsCREBBPRubinstein–Taybi syndromeAtrichia with papular lesionsMevalonatepathwayHMG-CoA lyase deficiencyHyper-IgD syndromeMevalonate kinase deficiencycholesterol7-DehydrocholesterolHydrops-ectopic calcification-moth-eaten skeletal dysplasiaCHILD syndromeConradi–Hünermann syndromeLathosterolosisSmith–Lemli–Opitz syndromedesmosterolDesmosterolosisSteroidsCorticosteroidaldosteroneGlucocorticoid remediable aldosteronismcortisolcortisoneCAH 17α-hydroxylaseCAH 11β-hydroxylaseCAH 3β-dehydrogenaseCAH 21-hydroxylaseApparent mineralocorticoid excess syndrome/11β-dehydrogenaseSex steroidandrogens17α-Hydroxylase deficiency17,20-Lyase deficiencyCytochrome b5 deficiency3β-Hydroxysteroid dehydrogenase deficiency17β-Hydroxysteroid dehydrogenase deficiency5α-reductase 2 deficiencyestrogensAromatase excess syndromeX-linked ichthyosisAntley–Bixler syndromeCell surface receptorG protein-coupled receptorhormoneCongenital hypothyroidism 1