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Follicle-stimulating hormone insensitivity

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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). For individuals with XY
232:). Hence, in females, FSH insensitivity may not only result in deficiencies in estrogen production by granulosa cells, but in diminished androgen synthesis by both theca and granulosa cells as well, which could potentially explain why hyperandrogenism does not occur. 2207: 2148: 963: 1980: 224:(but possibly including inhibin B), has been shown to significantly enhance the LH-mediated stimulation of androgen production by theca cells. In addition, theca cells predominantly secrete the relatively weak androgen 2186: 2138: 2133: 2153: 956: 185:
are common, whereas ambiguous genitalia does not occur in females with FSH insensitivity. Despite their similar causes, LH insensitivity is considerably more common in comparison to FSH insensitivity.
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In females, FSH insensitivity results in diminished development of ovarian follicles and granulosa cells and low to normal estrogen levels, elevated to very elevated gonadotropin levels, and low
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with estrogen may be used to treat symptoms of hypoestrogenism in females with the condition. There are currently no known treatments for the infertility caused by the condition in either sex.
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affecting both females and males, with the former presenting with much greater severity of symptomatology. It is characterized by a resistance or complete insensitivity to the effects of
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at puberty. However, this has not been found to be the case. This may be in part because FSH, via stimulation of granulosa cells and the resultant secretion of yet-unidentified
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in nearby granulosa cells that normally convert androgens into estrogens, it could be expected that females with FSH insensitivity might present with symptoms of
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levels, whereas males present with diminished Sertoli cell proliferation and moderately elevated FSH levels, normal to slightly elevated LH levels, normal
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in females, whereas males present merely with varying degrees of infertility and associated symptoms (e.g., decreased
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to respond to FSH in females, in turn resulting in diminished estrogen production by the ovaries and loss of
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Please help update this article to reflect recent events or newly available information.
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FSH insensitivity presents itself in females as two clusters of symptoms: 1)
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Due in part to elevated LH levels, which stimulate androgen production by
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Eberhard Nieschlag; Hermann M. Behre; Susan Nieschlag (3 December 2009).
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Wachs DS, Coffler MS, Malcom PJ, Shimasaki S, Chang RJ (May 2008).
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Barnes RB, Rosenfield RL, Namnoum A, Layman LC (October 2000).
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to respond to FSH in males, which in turn results in impaired
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Apparent mineralocorticoid excess syndrome/11β-dehydrogenase
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Hydrops-ectopic calcification-moth-eaten skeletal dysplasia
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Ovarian insensitivity to FSH, Granulosa cell hypoplasia
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Richard Evan Jones; Kristin H. LĂłpez (17 March 2006).
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Junctional epidermolysis bullosa with pyloric atresia
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which is normally responsible for the stimulation of
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The Journal of Clinical Endocrinology and Metabolism
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Andrology: Male Reproductive Health and Dysfunction
141:despite high circulating levels of gonadotropins), 62: 57: 1877:Ectrodactyly–ectodermal dysplasia–cleft syndrome 3 675: 129:in both sexes. The condition manifests itself as 3109:Gonadotropin-releasing hormone and gonadotropins 2657:Congenital insensitivity to pain with anhidrosis 439:17β-Hydroxysteroid dehydrogenase III deficiency 434:Combined 17α-hydroxylase/17,20-lyase deficiency 470: 468: 466: 464: 462: 2302: 1974: 1769:Yemenite deaf-blind hypopigmentation syndrome 957: 725: 8: 2402:Gonadotropin-releasing hormone insensitivity 419:Gonadotropin-releasing hormone insensitivity 299:FSH insensitivity is caused by inactivating 2818:Congenital amegakaryocytic thrombocytopenia 2213:17β-Hydroxysteroid dehydrogenase deficiency 2903:Autoimmune lymphoproliferative syndrome 1A 2541: 2386:Follicle-stimulating hormone insensitivity 2337: 2309: 2295: 2287: 2208:3β-Hydroxysteroid dehydrogenase deficiency 2173: 2092: 1981: 1967: 1959: 1901: 1803: 1670: 1219: 1038: 988: 964: 950: 942: 829: 753: 732: 718: 710: 58:Follicle-stimulating hormone insensitivity 54: 3067:X-linked severe combined immunodeficiency 2843:TNF receptor associated periodic syndrome 650: 601: 2222:Pseudovaginal perineoscrotal hypospadias 1373:Posterior polymorphous corneal dystrophy 1203:Autoimmune polyendocrine syndrome type 1 481:. Elsevier Health Sciences. p. 35. 271:, and normal sized to slightly enlarged 2855:Selective immunoglobulin A deficiency 2 2446:Aspirin-exacerbated respiratory disease 2117:Glucocorticoid remediable aldosteronism 1564:Anterior segment mesenchymal dysgenesis 458: 3030:EDAR hypohidrotic ectodermal dysplasia 2958:Familial exudative vitreoretinopathy 4 2515:Familial exudative vitreoretinopathy 1 201:levels, and reduced inhibin B levels. 174:luteinizing hormone (LH) insensitivity 2722:Hereditary hemorrhagic telangiectasia 2698:Persistent MĂĽllerian duct syndrome II 2469:Jansen's metaphyseal chondrodysplasia 1096:X-linked adrenal hypoplasia congenita 305:follicle-stimulating hormone receptor 7: 3043:Nevoid basal-cell carcinoma syndrome 2492:Familial hypocalciuric hypercalcemia 1148:Greig cephalopolysyndactyly syndrome 550:Allen M. Spiegel (23 January 1998). 263:, resulting in primary or secondary 133:(decreased or lack of production of 2806:Surfactant metabolism dysfunction 4 1990:Inborn errors of steroid metabolism 1522:Iridogoniodysgenesis, dominant type 590:The New England Journal of Medicine 424:Inborn errors of steroid metabolism 3055:BMPR1A juvenile polyposis syndrome 2976:LDLR Familial hypercholesterolemia 850:Isolated growth hormone deficiency 553:G Proteins, Receptors, and Disease 475:Mark A. Sperling (25 April 2008). 14: 2366:Luteinizing hormone insensitivity 87:in females, also referable to as 2434:Nephrogenic diabetes insipidus 1 1536:Lymphedema–distichiasis syndrome 1132:Tricho–rhino–phalangeal syndrome 1106:Familial partial lipodystrophy 3 346: 183:feminized or ambiguous genitalia 147:secondary sexual characteristics 20: 2374:Male-limited precocious puberty 1800:(0) Other transcription factors 1091:Estrogen insensitivity syndrome 1059:Androgen insensitivity syndrome 864:Secondary adrenal insufficiency 448:estrogen insensitivity syndrome 429:Isolated 17,20-lyase deficiency 2761:Leber's congenital amaurosis 1 2673:Gastrointestinal stromal tumor 1681:Hyperimmunoglobulin E syndrome 1086:PHA1AD pseudohypoaldosteronism 478:Pediatric Endocrinology E-Book 399:hypergonadotropic hypogonadism 237:hypergonadotropic hypogonadism 131:hypergonadotropic hypogonadism 125:in females and maintenance of 1: 3124:Human female endocrine system 3099:Autosomal recessive disorders 1943:Atrichia with papular lesions 774:Pituitary ACTH hypersecretion 556:. Humana Press. p. 159. 247:(if left untreated), reduced 2020:Mevalonate kinase deficiency 1650:Popliteal pterygium syndrome 1592:Enlarged vestibular aqueduct 1431:Waardenburg syndrome 1&3 1216:(3) Helix-turn-helix domains 975:relating to deficiencies of 111:follicle-stimulating hormone 85:ovarian insensitivity to FSH 73:Follicle-stimulating hormone 2354:Congenital hypothyroidism 1 1750:Premature ovarian failure 7 1606:Premature ovarian failure 3 1478:Congenital hypothyroidism 2 682:. Academic Press. pp.  603:10.1056/NEJM200010193431614 383:Hormone replacement therapy 89:ovarian follicle hypoplasia 3140: 3013:Glanzmann's thrombasthenia 2993:Immunoglobulin superfamily 2645:Rabson–Mendenhall syndrome 2327:G protein-coupled receptor 2187:17α-Hydroxylase deficiency 2065:Smith–Lemli–Opitz syndrome 2055:Conradi–HĂĽnermann syndrome 1897:Transcription coregulators 1667:with minor groove contacts 1054:Thyroid hormone resistance 893:Central diabetes insipidus 678:Human Reproductive Biology 3104:Endocrine gonad disorders 2867:Hyper-IgM syndrome type 3 2247:Aromatase excess syndrome 2218:5α-reductase 2 deficiency 1919:Rubinstein–Taybi syndrome 1745:SRY XY gonadal dysgenesis 1550:Bamforth–Lazarus syndrome 1162:Duane-radial ray syndrome 1111:SF1 XY gonadal dysgenesis 845:Growth hormone deficiency 522:. Springer. p. 225. 408:premature ovarian failure 143:reduced or absent puberty 93:granulosa cell hypoplasia 29:This article needs to be 2942:Cenani–Lenz syndactylism 2784:Type I cytokine receptor 2422:Hirschsprung's disease 2 2008:HMG-CoA lyase deficiency 1787:Cleidocranial dysostosis 1004:Saethre–Chotzen syndrome 922:Lymphocytic hypophysitis 145:(lack of development of 2624:Thanatophoric dysplasia 2418:Waardenburg syndrome 4a 1764:Waardenburg syndrome 4c 1464:Coloboma of optic nerve 1312:Tooth and nail syndrome 1152:Pallister–Hall syndrome 172:A related condition is 3078:cell surface receptors 2930:Donnai–Barrow syndrome 2604:Jackson–Weiss syndrome 2592:Antley–Bixler syndrome 2576:KAL2 Kallmann syndrome 2530:Enzyme-linked receptor 2370:Leydig cell hypoplasia 2272:Antley–Bixler syndrome 2192:17,20-Lyase deficiency 1707:Ulnar–mammary syndrome 1665:(4) β-Scaffold factors 1645:Van der Woude syndrome 1177:Townes–Brocks syndrome 1050:Intracellular receptor 413:Leydig cell hypoplasia 355:This section is empty. 319:, and an inability of 178:Leydig cell hypoplasia 95:in females, is a rare 2390:XX gonadal dysgenesis 2318:Cell surface receptor 1881:Limb–mammary syndrome 1869:Rapp–Hodgkin syndrome 1841:Pitt–Hopkins syndrome 1417:Papillorenal syndrome 1392:Mowat–Wilson syndrome 1298:Nail–patella syndrome 1182:Acrocallosal syndrome 415:(or LH insensitivity) 2736:Loeys–Dietz syndrome 2242:Aromatase deficiency 2149:CAH 3β-dehydrogenase 2040:7-Dehydrocholesterol 1723:Campomelic dysplasia 1702:Li–Fraumeni syndrome 1187:Myotonic dystrophy 2 1157:Denys–Drash syndrome 977:transcription factor 907:Empty sella syndrome 879:LH/hCG insensitivity 643:10.1210/jc.2007-2664 444:Aromatase deficiency 325:seminiferous tubules 153:if left untreated), 2267:X-linked ichthyosis 2139:CAH 11β-hydroxylase 2134:CAH 17α-hydroxylase 1517:Axenfeld syndrome 3 1331:Axenfeld syndrome 1 1270:SPD1 synpolydactyly 1035:DNA-binding domains 769:Hyperprolactinaemia 97:autosomal recessive 2706:TGF beta receptors 2154:CAH 21-hydroxylase 2015:Hyper-IgD syndrome 1873:Hay–Wells syndrome 1697:Holt–Oram syndrome 1459:Gillespie syndrome 1378:Fuchs' dystrophy 3 1256:Currarino syndrome 917:Sheehan's syndrome 912:Pituitary apoplexy 869:GnRH insensitivity 404:Gonadal dysgenesis 257:ovarian dysgenesis 245:sexual infantilism 189:Signs and symptoms 151:sexual infantilism 121:production by the 3086: 3085: 2770: 2769: 2620:Hypochondroplasia 2596:Pfeiffer syndrome 2572:Pfeiffer syndrome 2524: 2523: 2284: 2283: 2280: 2279: 2255: 2254: 1956: 1955: 1952: 1951: 1822: 1821: 1795: 1794: 1660: 1659: 1237:Ohtahara syndrome 1211: 1210: 1081:Kennedy's disease 1028: 1027: 999:Feingold syndrome 985:(1) Basic domains 973:Genetic disorders 939: 938: 935: 934: 927:Pituitary adenoma 874:FSH insensitivity 855:Hypoprolactinemia 840:Kallmann syndrome 819: 818: 806:Nelson's syndrome 741:Pituitary disease 693:978-0-12-088465-0 563:978-0-89603-430-3 529:978-3-540-78354-1 488:978-1-4377-1109-7 375: 374: 313:ovarian follicles 281:testicular volume 222:paracrine factors 70: 69: 52:Medical condition 50: 49: 3131: 2640:Donohue syndrome 2600:Crouzon syndrome 2560:Robinow syndrome 2542: 2338: 2311: 2304: 2297: 2288: 2174: 2093: 1983: 1976: 1969: 1960: 1902: 1804: 1671: 1242:Lissencephaly X2 1220: 1127:Barakat syndrome 1039: 989: 966: 959: 952: 943: 830: 754: 749:Hyperpituitarism 734: 727: 720: 711: 705: 704: 702: 700: 681: 671: 665: 664: 654: 622: 616: 615: 605: 581: 575: 574: 572: 570: 547: 541: 540: 538: 536: 513: 500: 499: 497: 495: 472: 370: 367: 357:You can help by 350: 343: 317:menstrual cycles 218:hyperandrogenism 167:sperm production 55: 45: 42: 36: 24: 23: 16: 3139: 3138: 3134: 3133: 3132: 3130: 3129: 3128: 3089: 3088: 3087: 3082: 2986:Other/ungrouped 2981: 2962:Osteopetrosis 1 2908: 2823: 2766: 2741: 2678: 2628:Muenke syndrome 2534: 2532: 2520: 2497: 2474: 2451: 2329: 2321: 2315: 2285: 2276: 2251: 2227: 2200: 2163: 2099: 2082: 2078:Desmosterolosis 2060:Lathosterolosis 2024: 1999: 1992: 1987: 1957: 1948: 1925: 1891: 1818: 1814:Kabuki syndrome 1791: 1775: 1711: 1685: 1666: 1656: 1626: 1498: 1398: 1207: 1191: 1136: 1115: 1034: 1033:(2) Zinc finger 1024: 1008: 980: 979:or coregulators 970: 940: 931: 895: 883: 860:ACTH deficiency 825:Hypopituitarism 815: 794: 778: 743: 738: 708: 698: 696: 694: 673: 672: 668: 624: 623: 619: 583: 582: 578: 568: 566: 564: 549: 548: 544: 534: 532: 530: 515: 514: 503: 493: 491: 489: 474: 473: 460: 456: 391: 380: 371: 365: 362: 341: 333:spermatogenesis 309:granulosa cells 297: 289:spermatogenesis 285:oligozoospermia 241:hypoestrogenism 226:androstenedione 191: 149:, resulting in 53: 46: 40: 37: 34: 25: 21: 12: 11: 5: 3137: 3135: 3127: 3126: 3121: 3116: 3111: 3106: 3101: 3091: 3090: 3084: 3083: 3081: 3080: 3075: 3071: 3070: 3058: 3046: 3021: 3020: 3015: 3010: 3000: 2999: 2989: 2987: 2983: 2982: 2980: 2979: 2966: 2965: 2954:Worth syndrome 2945: 2933: 2916: 2914: 2913:Lipid receptor 2910: 2909: 2907: 2906: 2894: 2882: 2870: 2858: 2846: 2833: 2831: 2825: 2824: 2822: 2821: 2810: 2809: 2797: 2794:Laron syndrome 2780: 2778: 2772: 2771: 2768: 2767: 2765: 2764: 2751: 2749: 2743: 2742: 2740: 2739: 2725: 2702: 2701: 2688: 2686: 2680: 2679: 2677: 2676: 2669:KIT Piebaldism 2660: 2648: 2642: 2631: 2616:Achondroplasia 2607: 2588:Apert syndrome 2579: 2563: 2550: 2548: 2539: 2526: 2525: 2522: 2521: 2519: 2518: 2505: 2503: 2499: 2498: 2496: 2495: 2482: 2480: 2476: 2475: 2473: 2472: 2459: 2457: 2453: 2452: 2450: 2449: 2437: 2425: 2405: 2393: 2377: 2357: 2344: 2342: 2335: 2323: 2322: 2316: 2314: 2313: 2306: 2299: 2291: 2282: 2281: 2278: 2277: 2275: 2274: 2269: 2263: 2261: 2257: 2256: 2253: 2252: 2250: 2249: 2244: 2238: 2236: 2229: 2228: 2226: 2225: 2224: 2223: 2215: 2210: 2205: 2204: 2203: 2198: 2189: 2183: 2181: 2171: 2165: 2164: 2162: 2161: 2156: 2151: 2142: 2141: 2136: 2120: 2119: 2107: 2105: 2097:Corticosteroid 2090: 2084: 2083: 2081: 2080: 2068: 2067: 2062: 2057: 2052: 2050:CHILD syndrome 2047: 2035: 2033: 2026: 2025: 2023: 2022: 2017: 2011: 2010: 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528: 501: 487: 457: 455: 452: 451: 450: 441: 436: 431: 426: 421: 416: 410: 401: 390: 387: 379: 376: 373: 372: 353: 351: 340: 337: 296: 293: 249:uterine volume 190: 187: 68: 67: 64: 60: 59: 51: 48: 47: 28: 26: 19: 13: 10: 9: 6: 4: 3: 2: 3136: 3125: 3122: 3120: 3117: 3115: 3114:Rare diseases 3112: 3110: 3107: 3105: 3102: 3100: 3097: 3096: 3094: 3079: 3076: 3073: 3072: 3068: 3064: 3063: 3059: 3056: 3052: 3051: 3047: 3044: 3040: 3039: 3035: 3034: 3033: 3031: 3027: 3026: 3019: 3016: 3014: 3011: 3009: 3005: 3002: 3001: 2998: 2994: 2991: 2990: 2988: 2984: 2977: 2973: 2972: 2968: 2967: 2963: 2959: 2955: 2951: 2950: 2946: 2943: 2939: 2938: 2934: 2931: 2927: 2926: 2921: 2918: 2917: 2915: 2911: 2904: 2900: 2899: 2895: 2892: 2888: 2887: 2883: 2880: 2876: 2875: 2871: 2868: 2864: 2863: 2859: 2856: 2852: 2851: 2847: 2844: 2840: 2839: 2835: 2834: 2832: 2830: 2826: 2819: 2815: 2812: 2811: 2807: 2803: 2802: 2798: 2795: 2791: 2790: 2785: 2782: 2781: 2779: 2777: 2773: 2762: 2758: 2757: 2753: 2752: 2750: 2748: 2744: 2737: 2733: 2729: 2726: 2723: 2719: 2715: 2711: 2707: 2704: 2703: 2699: 2695: 2694: 2690: 2689: 2687: 2685: 2681: 2674: 2670: 2666: 2665: 2661: 2658: 2654: 2653: 2649: 2646: 2643: 2641: 2637: 2636: 2632: 2629: 2625: 2621: 2617: 2613: 2612: 2608: 2605: 2601: 2597: 2593: 2589: 2585: 2584: 2580: 2577: 2573: 2569: 2568: 2564: 2561: 2557: 2556: 2552: 2551: 2549: 2547: 2543: 2540: 2537: 2536:growth factor 2531: 2527: 2516: 2512: 2511: 2507: 2506: 2504: 2500: 2493: 2489: 2488: 2484: 2483: 2481: 2477: 2470: 2466: 2465: 2461: 2460: 2458: 2454: 2447: 2443: 2442: 2438: 2435: 2431: 2430: 2426: 2423: 2419: 2415: 2414:ABCD syndrome 2411: 2410: 2406: 2403: 2399: 2398: 2394: 2391: 2387: 2383: 2382: 2378: 2375: 2371: 2367: 2363: 2362: 2358: 2355: 2351: 2350: 2346: 2345: 2343: 2339: 2336: 2333: 2328: 2324: 2319: 2312: 2307: 2305: 2300: 2298: 2293: 2292: 2289: 2273: 2270: 2268: 2265: 2264: 2262: 2258: 2248: 2245: 2243: 2240: 2239: 2237: 2235: 2230: 2221: 2220: 2219: 2216: 2214: 2211: 2209: 2206: 2202: 2195: 2194: 2193: 2190: 2188: 2185: 2184: 2182: 2180: 2175: 2172: 2170: 2166: 2160: 2157: 2155: 2152: 2150: 2147: 2144: 2143: 2140: 2137: 2135: 2132: 2130: 2126: 2122: 2121: 2118: 2115: 2113: 2109: 2108: 2106: 2103: 2098: 2094: 2091: 2089: 2085: 2079: 2076: 2074: 2070: 2069: 2066: 2063: 2061: 2058: 2056: 2053: 2051: 2048: 2046: 2043: 2041: 2037: 2036: 2034: 2032: 2027: 2021: 2018: 2016: 2013: 2012: 2009: 2006: 2005: 2003: 2001: 1995: 1991: 1984: 1979: 1977: 1972: 1970: 1965: 1964: 1961: 1944: 1940: 1939: 1935: 1934: 1932: 1928: 1920: 1917: 1916: 1915: 1914: 1910: 1909: 1907: 1903: 1900: 1898: 1894: 1886: 1882: 1878: 1874: 1870: 1867: 1866: 1865: 1864: 1860: 1856: 1853: 1852: 1851: 1850: 1846: 1842: 1839: 1838: 1837: 1836: 1832: 1831: 1829: 1825: 1815: 1812: 1811: 1809: 1805: 1802: 1798: 1788: 1785: 1784: 1782: 1778: 1770: 1767: 1765: 1762: 1761: 1760: 1759: 1755: 1751: 1748: 1746: 1743: 1742: 1741: 1740: 1736: 1734: 1731: 1729: 1726: 1724: 1721: 1720: 1718: 1714: 1708: 1705: 1703: 1700: 1698: 1695: 1694: 1692: 1688: 1682: 1679: 1678: 1676: 1672: 1669: 1663: 1651: 1648: 1646: 1643: 1642: 1641: 1640: 1636: 1635: 1633: 1629: 1621: 1618: 1617: 1616: 1615: 1611: 1607: 1604: 1603: 1602: 1601: 1597: 1593: 1590: 1589: 1588: 1587: 1583: 1579: 1576: 1575: 1574: 1573: 1569: 1565: 1562: 1561: 1560: 1559: 1555: 1551: 1548: 1547: 1546: 1545: 1541: 1537: 1534: 1533: 1532: 1531: 1527: 1523: 1520: 1518: 1515: 1514: 1513: 1512: 1508: 1507: 1505: 1501: 1493: 1490: 1489: 1488: 1487: 1483: 1479: 1476: 1475: 1474: 1473: 1469: 1465: 1462: 1460: 1457: 1456: 1455: 1454: 1450: 1446: 1443: 1442: 1441: 1440: 1436: 1432: 1429: 1428: 1427: 1426: 1422: 1418: 1415: 1414: 1413: 1412: 1408: 1407: 1405: 1401: 1393: 1390: 1389: 1388: 1387: 1383: 1379: 1376: 1374: 1371: 1370: 1369: 1368: 1364: 1360: 1357: 1356: 1355: 1354: 1350: 1346: 1343: 1342: 1341: 1340: 1336: 1332: 1329: 1328: 1327: 1326: 1322: 1318: 1315: 1313: 1310: 1309: 1308: 1307: 1303: 1299: 1296: 1295: 1294: 1293: 1289: 1285: 1282: 1281: 1280: 1279: 1275: 1271: 1268: 1267: 1266: 1265: 1261: 1257: 1254: 1253: 1252: 1251: 1247: 1243: 1240: 1238: 1235: 1234: 1233: 1232: 1228: 1227: 1225: 1221: 1218: 1214: 1204: 1201: 1200: 1198: 1194: 1188: 1185: 1183: 1180: 1178: 1175: 1173: 1170: 1168: 1165: 1163: 1160: 1158: 1155: 1153: 1149: 1146: 1145: 1143: 1139: 1133: 1130: 1128: 1125: 1124: 1122: 1118: 1112: 1109: 1107: 1104: 1102: 1099: 1097: 1094: 1092: 1089: 1087: 1084: 1082: 1079: 1075: 1072: 1070: 1067: 1065: 1062: 1061: 1060: 1057: 1055: 1051: 1047: 1046: 1044: 1040: 1037: 1031: 1021: 1018: 1017: 1015: 1011: 1005: 1002: 1000: 997: 996: 994: 990: 987: 983: 978: 974: 967: 962: 960: 955: 953: 948: 947: 944: 928: 925: 923: 920: 918: 915: 913: 910: 908: 905: 904: 902: 898: 894: 890: 886: 880: 877: 875: 872: 870: 867: 865: 861: 858: 856: 853: 851: 848: 846: 843: 841: 838: 837: 835: 831: 828: 826: 822: 812: 809: 807: 804: 803: 801: 797: 791: 788: 787: 785: 781: 775: 772: 770: 767: 765: 762: 761: 759: 755: 752: 750: 746: 742: 735: 730: 728: 723: 721: 716: 715: 712: 695: 689: 685: 680: 679: 670: 667: 662: 658: 653: 648: 644: 640: 636: 632: 628: 621: 618: 613: 609: 604: 599: 595: 591: 587: 580: 577: 565: 559: 555: 554: 546: 543: 531: 525: 521: 520: 512: 510: 508: 506: 502: 490: 484: 480: 479: 471: 469: 467: 465: 463: 459: 453: 449: 445: 442: 440: 437: 435: 432: 430: 427: 425: 422: 420: 417: 414: 411: 409: 405: 402: 400: 396: 393: 392: 388: 386: 384: 377: 369: 366:February 2017 360: 356: 352: 349: 345: 344: 338: 336: 334: 330: 326: 322: 321:Sertoli cells 318: 314: 310: 306: 302: 294: 292: 290: 286: 282: 278: 274: 270: 266: 262: 258: 254: 250: 246: 242: 238: 233: 231: 227: 223: 219: 215: 211: 207: 202: 200: 196: 188: 186: 184: 179: 175: 170: 168: 164: 160: 156: 152: 148: 144: 140: 136: 132: 128: 124: 120: 116: 112: 108: 105: 101: 98: 94: 90: 86: 82: 81:insensitivity 78: 74: 65: 61: 56: 44: 32: 27: 18: 17: 3060: 3048: 3036: 3023: 3022: 2969: 2947: 2935: 2923: 2896: 2884: 2872: 2860: 2848: 2836: 2829:TNF receptor 2799: 2787: 2754: 2691: 2662: 2650: 2633: 2609: 2581: 2565: 2553: 2508: 2485: 2462: 2439: 2427: 2407: 2395: 2385: 2379: 2359: 2347: 2320:deficiencies 2197:Cytochrome b 2145: 2123: 2110: 2071: 2038: 1936: 1930:Corepressor: 1911: 1905:Coactivator: 1861: 1847: 1833: 1756: 1737: 1637: 1612: 1598: 1584: 1570: 1556: 1542: 1528: 1509: 1484: 1470: 1451: 1437: 1423: 1409: 1384: 1365: 1351: 1337: 1323: 1304: 1290: 1276: 1262: 1248: 1229: 873: 811:Hypophysitis 697:. Retrieved 677: 669: 634: 630: 620: 593: 589: 579: 567:. Retrieved 552: 545: 533:. Retrieved 518: 492:. Retrieved 477: 395:Hypogonadism 381: 363: 359:adding to it 354: 298: 253:osteoporosis 234: 203: 199:testosterone 192: 171: 159:menstruation 135:sex steroids 115:gonadotropin 92: 88: 84: 80: 76: 72: 71: 38: 30: 2330:(including 2169:Sex steroid 2112:aldosterone 2100:(including 2073:desmosterol 2031:cholesterol 277:infertility 269:infertility 206:theca cells 163:infertility 63:Other names 3093:Categories 2533:(including 2201:deficiency 1998:Mevalonate 764:Acromegaly 454:References 279:, reduced 265:amenorrhea 155:amenorrhea 41:April 2017 3119:Syndromes 2886:TNFRSF13B 2874:TNFRSF13C 2850:TNFRSF13B 2234:estrogens 2179:androgens 2129:cortisone 1827:Ungrouped 888:Posterior 783:Posterior 378:Treatment 339:Diagnosis 329:testicles 301:mutations 287:(reduced 255:; and 2) 230:estradiol 214:aromatase 195:inhibin B 157:(lack of 127:fertility 113:(FSH), a 104:endocrine 3074:See also 3004:Integrin 2838:TNFRSF1A 2776:JAK-STAT 2710:Endoglin 2125:cortisol 2088:Steroids 833:Anterior 757:Anterior 661:18285408 612:11041762 389:See also 176:(termed 119:estrogen 107:syndrome 2997:AGM3, 6 2898:TNFRSF6 2862:TNFRSF5 2502:Class F 2479:Class C 2456:Class B 2341:Class A 2332:hormone 2000:pathway 1578:ACD/MPV 900:General 799:General 699:11 June 652:2386684 569:10 June 535:10 June 494:10 June 327:of the 323:in the 303:of the 273:ovaries 261:failure 210:ovaries 208:in the 161:), and 137:by the 123:ovaries 100:genetic 31:updated 3050:BMPR1A 2801:CSF2RA 2756:GUCY2D 2732:TGFBR2 2728:TGFBR1 2441:PTGER2 1913:CREBBP 1733:MODY 5 1728:MODY 3 1492:STHAG3 1445:MODY 9 1353:POU3F4 1345:DFNA15 1339:POU4F3 1284:MODY 4 1264:HOXD13 1172:MRX 89 1167:MODY 7 1101:MODY 1 690:  659:  649:  610:  560:  526:  485:  283:, and 251:, and 139:gonads 3062:IL2RG 3038:PTCH1 2891:CVID2 2879:CVID4 2718:SMAD4 2714:Alk-1 2693:AMHR2 2652:NTRK1 2611:FGFR3 2583:FGFR2 2567:FGFR1 2464:PTH1R 2429:AVPR2 2409:EDNRB 2397:GnRHR 2361:LHCGR 2260:Other 2146:both: 2075:path: 2042:path: 1855:TNDM1 1849:ZFP57 1758:SOX10 1614:FOXP3 1600:FOXL2 1586:FOXI1 1572:FOXF1 1558:FOXE3 1544:FOXE1 1530:FOXC2 1511:FOXC1 1359:DFNX2 1325:PITX2 1292:LMX1B 790:SIADH 686:–39. 295:Cause 83:, or 3025:EDAR 3008:LAD1 2971:LDLR 2949:LRP5 2937:LRP4 2925:LRP2 2684:STPK 2635:INSR 2555:ROR2 2510:FZD4 2487:CASR 2381:FSHR 2349:TSHR 1885:OFC8 1863:TP63 1835:TCF4 1780:4.11 1639:IRF6 1620:IPEX 1486:PAX9 1472:PAX8 1453:PAX6 1439:PAX4 1425:PAX3 1411:PAX2 1386:ZEB2 1367:ZEB1 1317:OFC5 1306:MSX1 1278:PDX1 1250:MNX1 1074:CAIS 1069:MAIS 1064:PAIS 701:2012 688:ISBN 657:PMID 608:PMID 571:2012 558:ISBN 537:2012 524:ISBN 496:2012 483:ISBN 446:and 406:and 397:and 102:and 2920:LRP 2814:MPL 2664:KIT 2546:RTK 2232:To 2177:To 2102:CAH 2029:To 1807:0.6 1739:SF1 1716:4.7 1690:4.3 1674:4.2 1631:3.5 1503:3.3 1403:3.2 1231:ARX 1223:3.1 1196:2.5 1141:2.3 1120:2.2 1052:): 1042:2.1 1013:1.3 992:1.2 647:PMC 639:doi 598:doi 594:343 361:. 311:in 291:). 259:or 239:or 169:). 91:or 77:FSH 3095:: 3032:) 3006:: 2995:: 2960:, 2956:, 2922:: 2789:GH 2786:: 2747:GC 2708:: 2671:, 2626:, 2622:, 2618:, 2602:, 2598:, 2594:, 2590:, 2574:, 2420:, 2416:, 2388:, 2372:, 2368:, 1938:HR 684:38 655:. 645:. 635:93 633:. 629:. 606:. 592:. 588:. 504:^ 461:^ 335:. 267:, 79:) 3069:) 3065:( 3057:) 3053:( 3045:) 3041:( 3028:( 2978:) 2974:( 2964:) 2952:( 2944:) 2940:( 2932:) 2928:( 2905:) 2901:( 2893:) 2889:( 2881:) 2877:( 2869:) 2865:( 2857:) 2853:( 2845:) 2841:( 2820:) 2816:( 2808:) 2804:( 2796:) 2792:( 2763:) 2759:( 2738:) 2734:( 2730:/ 2724:) 2720:( 2716:/ 2712:/ 2700:) 2696:( 2675:) 2667:( 2659:) 2655:( 2647:) 2638:( 2630:) 2614:( 2606:) 2586:( 2578:) 2570:( 2562:) 2558:( 2538:) 2517:) 2513:( 2494:) 2490:( 2471:) 2467:( 2448:) 2444:( 2436:) 2432:( 2424:) 2412:( 2404:) 2400:( 2392:) 2384:( 2376:) 2364:( 2356:) 2352:( 2334:) 2310:e 2303:t 2296:v 2199:5 2131:: 2127:/ 2114:: 2104:) 1982:e 1975:t 1968:v 1945:) 1941:( 1883:/ 1879:/ 1875:/ 1871:/ 1150:/ 1048:( 965:e 958:t 951:v 862:/ 733:e 726:t 719:v 703:. 663:. 641:: 614:. 600:: 573:. 539:. 498:. 368:) 364:( 75:( 43:) 39:( 33:.

Index

autosomal recessive
genetic
endocrine
syndrome
follicle-stimulating hormone
gonadotropin
estrogen
ovaries
fertility
hypergonadotropic hypogonadism
sex steroids
gonads
reduced or absent puberty
secondary sexual characteristics
sexual infantilism
amenorrhea
menstruation
infertility
sperm production
luteinizing hormone (LH) insensitivity
Leydig cell hypoplasia
feminized or ambiguous genitalia
inhibin B
testosterone
theca cells
ovaries
aromatase
hyperandrogenism
paracrine factors
androstenedione

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