Hypogonadotropic hypogonadism in an adult female with a heterozygous hypomorphic mutation of SOX2

European Journal of Endocrinology

Volumn 156, Issue 2, 2007, Pages 167-171

  Sato, Naoko ^a   Kamachi, Yusuke ^a   Kondoh, Hisato ^a   Shima, Yuichi ^b   Morohashi, Ken Ichirou ^b   Horikawa, Reiko ^c   Ogata, Tsutomu ^d  

^a OSAKA UNIVERSITY   (Japan)

^b NATIONAL INSTITUTE FOR BASIC BIOLOGY   (Japan)

^c NATIONAL CENTER FOR CHILD HEALTH AND DEVELOPMENT   (Japan)

^d NATIONAL RESEARCH INSTITUTE FOR CHILD HEALTH AND DEVELOPMENT   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

CORTICOTROPIN; DELTA 1 CRYSTALLIN; DELTA CRYSTALLIN; ESTRADIOL; FOLLITROPIN; GROWTH HORMONE; HORMONE; HYDROCORTISONE; HYPOPHYSIS HORMONE; LIOTHYRONINE; LUTEINIZING HORMONE; MUTANT PROTEIN; NESTIN; PROLACTIN; SOMATOMEDIN C; TESTOSTERONE; THYROTROPIN; THYROXINE; TRANSCRIPTION FACTOR SOX2; UNCLASSIFIED DRUG; HIGH MOBILITY GROUP B PROTEIN; SOX2 PROTEIN, HUMAN; TRANSCRIPTION FACTOR;

ADULT; ANOPHTHALMIA; ARTICLE; BINDING AFFINITY; BRAIN TOMOGRAPHY; CASE REPORT; CHROMOSOME ANALYSIS; CONTROLLED STUDY; FEMALE; FOLLITROPIN BLOOD LEVEL; GENETIC ASSOCIATION; GONADORELIN TEST; HETEROZYGOTE; HORMONAL REGULATION; HORMONE SUBSTITUTION; HORMONE SYNTHESIS; HUMAN; HYPOGONADOTROPIC HYPOGONADISM; JAPANESE; LUTEINIZING HORMONE BLOOD LEVEL; MISSENSE MUTATION; MUTATIONAL ANALYSIS; PRIMARY AMENORRHEA; PRIORITY JOURNAL; PROTEIN DNA BINDING; PROTEIN DOMAIN; PUBERTY DISORDERS; TRANSACTIVATION; UTERUS DISEASE; CHEMISTRY; GENETICS; HYPOGONADISM; METABOLISM; NUCLEOTIDE SEQUENCE; PROTEIN BINDING; PROTEIN TERTIARY STRUCTURE;

ADULT; ANOPHTHALMOS; DNA MUTATIONAL ANALYSIS; FEMALE; HETEROZYGOTE; HMGB PROTEINS; HUMANS; HYPOGONADISM; MUTATION, MISSENSE; PROTEIN BINDING; PROTEIN STRUCTURE, TERTIARY; TRANSCRIPTION FACTORS;

EID: 33947716499     PISSN: 08044643     EISSN: None     Source Type: Journal    
DOI: 10.1530/EJE-06-0606     Document Type: Article

References (20)

1. Grumbach MM & Styne DM. Puberty: ontogeny, neuroendocrinology, physiology, and disorders. In Williams Textbook of Endocrinology, edn 10, pp 1115-1286. Eds PR Larsen, HM Kronenberg, S Melmed & KS Polonsky. Philadelphia: Saunders, 2002.
2. Iovane A, Aumas C & de Roux N. New insights in the genetics of isolated hypogonadotropic hypogonadism. European Journal of Endocrinology 2004 151 83-88.
3. Achermann JC, Ozisik G, Meeks JJ & Jameson JL. Genetic causes of human reproductive disease. Journal of Clinical Endocrinology and Metabolism 2002 87 2447-2454.
4. Kamachi Y, Uchikawa M & Kondoh H. Pairing SOX off: with partners in the regulation of embryonic development. Trends in Genetics 2000 16 182-187.
5. Avilion AA, Nicolis SK, Pevny LH, Perez L, Vivian N & Lovell-Badge R. Multipotent cell lineages in early mouse development depend on SOX2 function. Genes and Development 2003 17 126-140.
6. Kondoh H, Uchikawa M & Kamachi Y. Interplay of Pax6 and SOX2 in lens development as a paradigm of genetic switch mechanisms for cell differentiation. International Journal of Developmental Biology 2004 48 819-827.
7. Kamachi Y, Sockanathan S, Liu Q, Breitman M, Lovell-Badge R & Kondoh H. Involvement of SOX proteins in lens-specific activation of crystallin genes. EMBO Journal 1995 14 3510-3519.
8. Tanaka S, Kamachi Y, Tanouchi A, Hamada H, Jing N & Kondoh H. Interplay of SOX and POU factors in regulation of the Nestin gene in neural primordial cells. Molecular and Cellular Biology 2004 24 8834-8846.
9. Kamachi Y, Uchikawa M, Tanouchi A, Sekido R & Kondoh H. Pax6 and SOX2 form a co-DNA-binding partner complex that regulates initiation of lens development. Genes and Development 2001 15 1272-1286.
10. Fantes J, Ragge NK, Lynch SA, McGill NI, Collin JR, Howard-Peebles PN, Hayward C, Vivian AJ, Williamson K, van Heyningen V & Fitzpatrick DR. Mutations in SOX2 cause anophthalmia. Nature Genetics 2003 33 461-463.
11. Ragge NK, Lorenz B, Schneider A, Bushby K, de Sanctis L, de Sanctis U, Salt A, Collin JR, Vivian AJ, Free SL, Thompson P, Williamson KA, Sisodiya SM, van Heyningen V & Fitzpatrick DR. SOX2 anophthalmia syndrome. American Journal of Medical Genetics Part A 2005 135 1-7.
12. Kelberman D, Rizzoti K, Avilion A, Bitner-Glindzicz M, Cianfarani S, Collins J, Chong WK, Kirk JM, Achermann JC, Ross R, Carmignac D, Lovell-Badge R, Robinson IC & Dattani MT. Mutations within Sox2/SOX2 are associated with abnormalities in the hypothalamo-pituitary-gonadal axis in mice and humans. Journal of Clinical Investigation 2006 116 2442-2455.
13. Japan Public Health Association. Normal Biochemical Values in Japanese Children, Tokyo: Sanko Press, 1996 (in Japanese).
14. Ujihara M. Normal blood and urine hormone values in the Japanese. In Manual for Diagnosis and Treatment of Endocrine Disorders, pp 177-187. Eds K Shizume & K Takano. Tokyo: Igaku-no-Sekaisha, 1997 (in Japanese).
15. Murata M, Matsuo N, Tanaka T, Ohtsuki F, Ashizawa K, Tatara H, Anzo M, Sato M, Matsuoka H, Asami T & Tsukakoshi K. Radiographic Atlas of Skeletal Development for the Japanese. Tokyo: Kanehara Press, 1993 (in Japanese).
16. Kamachi Y & Kondoh H. Overlapping positive and negative regulatory elements determine lens-specific activity of the delta 1-crystallin enhancer. Molecular and Cellular Biology 1993 13 5206-5215.
17. Williamson KA, Hever AM, Rainger J, Rogers RC, Magee A, Fiedler Z, Keng WT, Sharkey FH, McGill N, Hill CJ, Schneider A, Messina M, Turnpenny PD, Fantes JA, van Heyningen V & Fitzpatrick DR. Mutations in SOX2 cause anophthalmia-esophageal-genital (AEG) syndrome. Human Molecular Genetics 2006 15 1413-1422.
18. Hagstrom SA, Pauer GJ, Reid J, Simpson E, Crowe S, Maumenee IH & Traboulsi EI. SOX2 mutation causes anophthalmia, hearing loss, and brain anomalies. American Journal of Medical Genetics Part A 2005 138 95-98.
19. Eroshkin F, Kazanskaya O, Martynova N & Zaraisky A. Characterization of cis-regulatory elements of the homeobox gene Xanf-1. Gene 2002 285 279-286.
20. Dattani MT, Martinez-Barbera JP, Thomas PQ, Brickman JM, Gupta R, Martensson IL, Toresson H, Fox M, Wales JK, Hindmarsh PC, Krauss S, Beddington RS & Robinson IC. Mutations in the homeobox gene HESX1 /Hesx1 associated with septo-optic dysplasia in human and mouse. Nature Genetics 1998 19 125-133.