Hypergonadotropic hypogonadism in a 3-year-old girl with blepharophimosis, ptosis, and epicanthus inversus syndrome

Hormone Research

Volumn 50, Issue 3, 1998, Pages 190-192

  Ogata, Tsutomu ^a   Hasegawa, Tomonobu ^a   Tamai, Shinya ^a   Sato, Seiji ^a   Hasegawa, Yukihiro ^b   Matsuo, Nobutake ^a  

^a KEIO UNIVERSITY   (Japan)

^b Div of Endocrinology and Metabolism   (Japan)

Author keywords

Blepharophimosis; Childhood; Hypergonadotropic hypogonadism; Ovarian failure

Indexed keywords

ESTRADIOL; FOLLITROPIN; GONADORELIN; HUMAN MENOPAUSAL GONADOTROPIN; LUTEINIZING HORMONE;

ARTICLE; BLEPHAROPHIMOSIS; CASE REPORT; EPICANTHUS; FEMALE; HUMAN; HYPERGONADOTROPIC HYPOGONADISM; OVARY INSUFFICIENCY; PRESCHOOL CHILD; PRIORITY JOURNAL; PTOSIS;

BLEPHAROPHIMOSIS; BLEPHAROPTOSIS; CHILD, PRESCHOOL; CHROMOSOMES, HUMAN, PAIR 3; EYELIDS; FEMALE; FOLLICLE STIMULATING HORMONE; GENE DELETION; GONADOTROPINS; HUMANS; HYPOGONADISM; LUTEINIZING HORMONE; OVARY; SYNDROME;

EID: 0031686450     PISSN: 03010163     EISSN: None     Source Type: Journal    
DOI: 10.1159/000023272     Document Type: Article

References (16)

1. Zlotogora J, Sagi M, Cohen T: The blepharophimosis, ptosis, and epicanthus inversus syndrome: Delineation of two types. Am J Hum Genet 1983;35:1020-1027.
2. Amati P, Gasparini P, Zlotogora J, Zwlante L, Chomel JK, Kitzis A: A gene for premature ovarian failure associated with eyelid malformation maps to chromosome 3q22-q23. Am J Hum Genet 1996;58:1089-1092.
3. Small KS, Stalvey M, Fisher L, Mullen L, Dickel C, Beadles K, Reimer R, Lessner A, Lewis K, Pericak-Vance M: Blepharophimosis syndrome is linked to chromosome 3q. Hum Mol Genet 1995;4:443-448.
4. Lawson CT, Toomes C, Fryer A, Carette MJM, Taylor GM, Fukushima Y, Dixon MJ: Definition of the blepharophimosis, ptosis, epicanthus inversus syndrome critical region at chromosome 3q23 based on the analysis of chromosomal anomalies. Hum Mol Genet 1995;5:963-967.
5. Fraser IS, Shearman RP, Smith A, Russel P: An association among blepharophimosis, resistant ovary syndrome, and true premature menopause. Fertil Steril 1988;50:747-751.
6. Nocolino M, Bost M, David M, Chaussain J-L: Familial blepharophimosis: An uncommon marker of ovarian dysgenesis. J Pediatr Endocrinol Metab 1995;8:127-133.
7. Japan Public Health Association: Normal Biochemical Values in Japanese Children (in Japanese). Tokyo, Sanko Press, 1996.
8. Ito J, Tanaka T, Horikawa R, Okada Y, Morita S, Kokaji M, Tanae A, Hibi I: Clinical study on the time-resolved fluoroimmunoassay of serum luteinizing hormone and follicle stimulating hormone in children: The change of serum gonadotropins in LHRH test and night time secretion during puberty (in Japanese). J Jpn Pediatr Soc 1993;97:1789-1796.
9. Gilbert EF, Opitz JM: Developmental and other pathologic changes in syndromes caused by chromosome abnormalities. Perspect Pediatr Pathol 1982;7:1-63.
10. Fryns JP, Strømme P, van den Berghe H: Further evidence for the location of the blepharophimosis syndrome (BPES) at 3q22.3-q23. Clin Genet 1993;44:149-151.
11. Ishikiriyama S, Goto M: Blepharophimosis sequence (BPES) and microcephaly in a girl with del(3)(q22.2q23): A putative gene responsible for microcephaly close to the BPES gene? Am J Med Genet 1993;47:487-489.
12. Jewett T, Rao PN, Weaver RG, Stewart W, Thomas IT, Pettenati MJ: Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) associated with interstitial deletion of band 3q22: Review and gene assignment to the interface of band 3q22.3 and 3q23. Am J Med Genet 1993;47:1147-1150.
13. Illig R, Tolksdorf M, Mürset G, Prader A: LH and FSH response to synthetic LH-RH in children and adolescents with Turner's and Klinefelter's syndrome. Helv Paediatr Acta 1975;30:221-231.
14. Ross JL, Loriaux DL, Cutter GB Jr: Developmental changes in neuroendocrine regulation of gonadotropin secretion in gonadal dysgenesis. J Clin Endocrinol Metab 1983;57:288-293.
15. Kumar TR, Wang Y, Lu N, Matzuk MM: Follicle stimulating hormone is required for ovarian follicle maturation but not male fertility. Nat Genet 1997;15:201-204.
16. Toledo SPA, Brunner HG, Kraaij R, Post M, Dahia PLM, Hayashida CY, Kremer H, Therman APN: An inactivation mutation of the luteinizing hormone receptor causes amenorrhea in a 46,XX female. J Clin Endocrinol Metab 1996;81:3850-3854.