Premature ovarian failure and ovarian ageing

doi:10.1017/CBO9780511527036.031

30 - Premature ovarian failure and ovarian ageing

from Part III - Management of specific disorders

Published online by Cambridge University Press: 04 May 2010

Colin J. Davis and

Edited by

Jane MacDougall and

Colin J. Davis: Affiliation:
St Bartholomews and the Royal London Hospitals, London, UK
Gerard S. Conway: Affiliation:
University College Hospital and The Middlesex Hospital, London, UK
Adam H. Balen: Affiliation:
Leeds Teaching Hospitals, University Trust
Sarah M. Creighton: Affiliation:
University College London Hospitals
Melanie C. Davies: Affiliation:
University College London
Jane MacDougall: Affiliation:
Addenbrooke's Hospital, Cambridge
Richard Stanhope: Affiliation:
Great Ormond Street Hospital

Book contents

Get access

Summary

Introduction

The ovary is a particularly unusual organ in that it is programmed to expire long before the average age of death. As such, it provides a unique model of the ageing process. An ovary that fails prematurely might do so through some defect in its development or through accelerated ageing. Because it is difficult to distinguish between these possibilities, it is convenient to consider processes of dysgenesis and demise together. Various labels have been applied to the phenomenon of early failure of the ovary: ovarian dysgenesis is usually applied to those women who present with primary amenorrhoea; premature ovarian failure (POF) applies to those with secondary hypergonadotrophic amenorrhoea before the age of 40; and early ovarian failure applies to those who enter the menopause between the ages of 40 and 45. Resistant ovary syndrome and occult ovarian failure are hypergonadotrophic states without amenorrhoea but are usually considered to be part of this spectrum of disorders. POF has a prevalence of 1% and is defined as amenorrhoea of greater than six months' duration in the presence of raised gonadotrophins, follicle-stimulating hormone (FSH) greater than 40 IU/l, on at least two occasions and occurring before the age of 40 (Coulam et al., 1986). This contrasts with the mean age of menopause at 51 years (McKinlay et al., 1972).

Aetiology

The cause of POF in most instances is unclear; however two broad mechanisms can be considered, acquired or genetic aetiologies.

Information

Type: Chapter
Information: Paediatric and Adolescent Gynaecology
A Multidisciplinary Approach
, pp. 373 - 388

DOI: https://doi.org/10.1017/CBO9780511527036.031 [Opens in a new window]

Publisher: Cambridge University Press

Print publication year: 2004

Access options

Get access to the full version of this content by using one of the access options below. (Log in options will check for institutional or personal access. Content may require purchase if you do not have access.)

Book purchase

Temporarily unavailable

References

Ahonen, P, Koskimies, S, Lokki, M L et al. (1988). The expression of autoimmune polyglandular disease type 1 appears associated with several HLA-A antigens but not with HLA-DR. J Clin Endocrinol Metab 66, 1151–1157CrossRef Google Scholar

Aittomaki, K (1994). The genetics of XX gonadal dysgenesis. Am J Hum Genet 54, 844–851Google Scholar PubMed

Aittomaki, K, Lucerna, J L D, Pakarinen, P et al. (1995). Mutation in the follicle-stimulating hormone receptor gene causes hereditary hypergonadotrophic ovarian failure. Cell 82, 959–968CrossRef Google Scholar

Aittomaki, K, Herva, U-H, Juntunen, K et al. (1996). Clinical features of primary ovarian failure caused by a point mutation in the follicle-stimulating hormone receptor gene. J Clin Endocrinol Metab 81, 3722–3726Google Scholar PubMed

Allingham-Hawkins, D J, Babul-Hirji, R et al. (1999). Fragile X premutation is a significant risk factor for premature ovarian failure: the International Collaborative POF in Fragile X study-preliminary data. Am J Med Genet 83, 322–3253.0.CO;2-B>CrossRef Google Scholar PubMed

Alper, M M, Garner, P R (1985). Premature ovarian failure: its relationship to autoimmune disease. Obstet Gynaecol 66, 27–30Google Scholar PubMed

Amati, P, Chomel, J C, Nivelon-Chevalier, A et al. (1995). A gene for blepharophimosis—ptosis—epicanthus inversus maps to chromosome 3q23. Hum Genet 96, 213–215CrossRef Google Scholar PubMed

Amati, P, Gasparini, P, Zlotogora, J et al. (1996). A gene for premature ovarian failure associated with eyelid malformation maps to chromosome 3q22-q23. Am J Hum Genet 58, 1089–1092Google Scholar PubMed

Anasti, J N, Kalantaridou, S N, Kimzey, L M et al. (1998). Bone loss in young women with karyotypically normal spontaneous premature ovarian failure. Obstet Gynaecol 91, 12–16CrossRef Google Scholar PubMed

Ataya, K, Rao, L V, Lawrence, E et al. (1995). Luteinising hormone-releasing agonist inhibits cyclophosphamide-induced ovarian follicular depletion in Rhesus monkeys. Biol Reprod 52, 365–372CrossRef Google Scholar

Aubard, Y, Piver, P, Pech, J C, Galinat, S, Teissier, M (2001). Ovarian tissue cryopreservation and gynecologic oncology: a review. Int J Obstet Gynecol Reprod Biol 97, 5–14CrossRef Google Scholar PubMed

Averette, H E, Boike, G M, Jarrell, M A (1990). Effects of cancer chemotherapy on gonadal function and reproductive capacity. Can J Clin 40, 199–209CrossRef Google Scholar PubMed

Baker, T G (1963). A quantitative and cytological study of germ cells in the human ovary. Proc Roy Soc Lond 158, 417–433CrossRef Google Scholar

Banfi, S, Borsani, G, Bulfone, A et al. (1997). Drosophila-related expressed sequences. Hum Mol Genet 6, 1745–1753CrossRef Google Scholar PubMed

Bates, A, Howard, P J (1990). Distal long arm deletions of the X chromosome and ovarian failure. J Med Genet 27, 722–723CrossRef Google Scholar PubMed

Beau, I, Touraine, P, Meduri, G et al. (1998). A novel phenotype related to partial loss of function mutations of the follicle stimulating hormone receptor. Clin Invest 102, 1352–1359CrossRef Google Scholar PubMed

Betterle, C, Rossi, A, Pria, Dalla S et al. (1993). Premature ovarian failure: autoimmunity and natural history. Clin Endocrinol 39, 35–43CrossRef Google Scholar PubMed

Bione, S, Sala, C, Manzini, C et al. (1998). A human homologue of the Drosophila melanogaster diaphanous gene is disrupted in a patient with premature ovarian failure: evidence for conserved function in oogenesis and implications for human sterility. Am J Hum Genet 62, 533–541CrossRef Google Scholar

Blizzard, R M, Gibbs, J H (1968). Candidiasis: studies pertaining to its association with endocrinopathies and pernicious anaemia. Paediatr 42, 231–236Google Scholar

Brambilla, D J, Mckinlay, S M (1989). A prospective study of factors affecting age at menopause. J Clin Epidemiol 42, 1031–1039CrossRef Google Scholar PubMed

Bryne, J, Mulvihill, J J, Myers, M H et al. (1987). Effects of treatment on fertility in long-term survivors of childhood cancer. N Engl J Med 317, 1315–1321CrossRef Google Scholar

Bursch, W, Kleine, L, Tenniswood, M (1990). The biochemistry of cell death via apoptosis. Biochem Cell Biol 68, 1071–1074CrossRef Google Scholar

Chapman, R M, Sutcliffe, S B (1981). Protection of ovarian function by oral contraceptive use in women receiving chemotherapy for Hodgkin's disease. Blood 58, 849–851Google Scholar PubMed

Check, J H, Nazari, A, Nowroozi, K, Shapse, D, Chase, J S, Vaze, M (1990). Ovulation induction and pregnancies in 100 consecutive women with hypergonadotropic amenorrhea. Fertil Steril 53, 90Google Scholar PubMed

Chen, S, Sawicka, J, Betterle, C et al. (1996). Autoantibodies to steroidogenic enzymes in autoimmune polyglandular syndrome, Addison's disease and premature ovarian failure. J Clin Endocrinol Metab 81, 1871–1876Google Scholar PubMed

Chen, Y T, Mattison, D R, Schulman, J D (1981). Hypogonadism and galactosaemia. N Engl J Med 305, 464Google Scholar

Chiquoine, A D (1960). The development of the zona pellucida in mammalian ovum. Am J Anat 106, 149–169CrossRef Google Scholar PubMed

Chu, C E, Connor, J M (1995). Molecular biology of Turner's Syndrome. Arch Dis Child 72, 285–286CrossRef Google Scholar PubMed

Collen, R J, Lippe, B M, Kaplan, S A (1979). Primary ovarian failure, juvenile rheumatoid arthritis and vitiligo. Am J Dis Child 133, 598–600Google Scholar PubMed

Conway, E, Hoppner, W, Gromoll, J et al. (1997). Mutations of the receptor gene are rare in familial and sporadic premature ovarian failure [Abstract]. J Endocrinol 152(suppl), 257Google Scholar

Conway, G S, Hettiarachchi, S, Murray, A et al. (1995). Fragile X premutations in familial premature ovarian failure. Lancet 346, 309–310CrossRef Google Scholar PubMed

Conway, G S, Kaltsas, G, Patel, A, Davies, M C, Jacobs, H S (1996). Characterization of idiopathic premature ovarian failure. Fertil Steril 65, 337–341CrossRef Google Scholar PubMed

Conway, G S, Payne, N N, Webb, J, Murray, A, Jacobs, P A (1998). Fragile X premutation screening in women with premature ovarian failure. Hum Reprod 13, 1184–1187CrossRef Google Scholar PubMed

Conway, G S, Conway, E, Walker, C et al. (1999). Mutation screening and isoform prevalence of the follicle stimulating hormone receptor gene mutation in women with premature ovarian failure, resistant ovary syndrome and polycystic ovarian syndrome. Clin Endocrinol (Oxf) 51, 97–99CrossRef Google Scholar

Coulam, C B, Kempers, R D, Randall, R V (1981). Premature ovarian failure. Fertil Steril 36, 238–240CrossRef Google Scholar PubMed

Coulam, C B, Adamson, S C, Annegers, J F (1986). Incidence of premature ovarian failure. Obstet Gynecol 67, 604–606Google Scholar PubMed

Coulam, C B, Stringfellow, S, Hoefnagel, D (1983). Evidence for a genetic factor in the aetiology of premature ovarian failure. Fertil Steril 40, 693–695CrossRef Google Scholar

Cramer, D W, Harlow, B L, Barbieri, R L et al. (1989). Galactose-1-phosphate uridyl transferase activity associated with age at menopause and reproductive history. Fertil Steril 51, 609–615CrossRef Google Scholar PubMed

Cramer, D W, Huijuan, X, Harlow, B L (1995). Family history as a predictor of early menopause. Fertil Steril 64, 740–745CrossRef Google Scholar PubMed

Crisponi, L, Deiana, M, Loi, A et al. (2001). The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome. Nat Genet 27, 159–166CrossRef Google Scholar PubMed

Cryns V L, Yuan J (1998). The cutting edge: caspases in apoptosis and disease. In When Cells Die. A Comprehensive Evaluation of Apoptosis and Programmed Cell Death, Lockshin R A, Zakeri Z, Tilly J L, eds., pp. 177–210. Wiley-Liss, New York

da Fonte Kolek, M B, Batista, M C, Russell, A J et al. (1998). No evidence of the inactivating mutation (C566T) in the follicle stimulating hormone receptor gene in Brazilian women with premature ovarian failure. Fertil Steril 70, 565–567CrossRef Google Scholar

Davis, C J, Davison, R M, Conway, G S (1998). Familial premature ovarian failure: clinical and genetic features. Cont Rev Obstet Gynecol 10, 289–294Google Scholar

Davis, C J, Davison, R M, Payne, N N et al. (2000). Female sex preponderance for idiopathic familial premature ovarian failure suggests an X chromosome defect. Hum Reprod 15, 2418–2422CrossRef Google Scholar PubMed

Davison, R M, Quilter, C R, Webb, J et al. (1998). A familial case of X chromosome deletion ascertained by cytogenetic screening of women with premature ovarian failure. Hum Reprod 13, 3039–3041CrossRef Google Scholar PubMed

Moraes-Ruehsen, M, Blizzard, R M, Garcia-Bunuel, R et al. (1972). Autoimmunity and ovarian failure. Am J Obstet Gynecol 112, 693–703CrossRef Google Scholar PubMed

Devroey, P, Wisanto, A, Camus, M et al. (1988). Oocyte donation in patients without ovarian function. Hum Reprod 3, 699–704CrossRef Google Scholar PubMed

Devys, D, Lutz, Y, Rouyer, N (1993). The FMR-1 protein is cytoplasmic, most abundant in neurons and appears in carriers of a fragile X premutation. Nat Genet 4, 335–340CrossRef Google Scholar PubMed

Dong, J, Albertini, D F, Nishimori, K et al. (1996). Growth differentiation factor-9 is required during early ovarian folliculogenesis. Nature 383, 485–486CrossRef Google Scholar PubMed

Dorfman, D M, Genest, D R, Pera, Reijo R A (1999). Human DAZL1 encodes a candidate fertility factor in women that localises to prenatal and postnatal germ cells. Hum Reprod 14, 2531–2536CrossRef Google Scholar

Elsas, L J, Fridovich-Keil, J L, Leslie, N (1993). Galactosaemia: a molecular approach to the enigma. Int Paediatr 8, 101–109Google Scholar

Epstein, R J (1990). Drug induced DNA damage and tumour chemosensitivity. J Clin Oncol 8, 2062–2084CrossRef Google Scholar

Familiari, U, Larocca, L M, Tamburrini, E et al. (1991). Premenopausal cytomegalovirus oophoritis in a patient with AIDS. AIDS 4, 458–459CrossRef Google Scholar

Fitch, N, saint Victor, J, Richer, C L et al. (1982). Premature menopause due to a small deletion in the long arm of the X chromosome: a report of three cases and a review. Am J Obstet Gynaecol 142, 968–972CrossRef Google Scholar

Fitzpatrick, S L, Sindoni, D M, Shughrue, P J et al. (1998). Expression of growth differentiation factor-9 messenger ribonucleic acid in ovarian and non-ovarian rodent and human tissues. Endocrinol 139, 2571–2578CrossRef Google Scholar

Fraser, I S, Greco, S, Robertson, D M (1986). Resistant ovary syndrome and premature ovarian failure in young women with galactosaemia. Clin Reprod Fertil 4, 133–138Google Scholar PubMed

Fraser, I S, Shearman, R P, Smith, A et al. (1988). An association between blepharophimosis, resistant ovary syndrome and true menopause. Fertil Steril 50, 747–751CrossRef Google Scholar PubMed

Fridovich-Keil, J L, Jinks-Robertson, S (1993). A yeast expression system for human galactose-1—phosphate uridylyltransferase. Proc Natl Acad Sci USA 90, 398–402CrossRef Google Scholar PubMed

Frisch, S M, Francis, H (1994). Disruption of epithelial cell-matrix interactions induces apoptosis. J Cell Biol 124, 619–626CrossRef Google Scholar PubMed

Gitzelmann, R, Steinman, B (1984). Galactosaemia: how does long-term treatment change the outcome?Enzyme 32, 37–46CrossRef Google Scholar PubMed

Goldstein, P (1997). Controlling cell death. Science 275, 1081–1082CrossRef Google Scholar

Gosden, R G, Faddy, M J (1998). Biological basis of premature ovarian failure. Reprod Fertil Dev 10, 73–78CrossRef Google Scholar

Gradishar, W J, Schilsky, R L (1989). Ovarian function following radiation and chemotherapy for cancer. Semin Oncol 16, 425–436Google Scholar PubMed

Grasso, E (1976). Parotiti epodemiche pluricomplicate. G Mal Infett Parasit 26, 184–187Google Scholar

Guinet, P, Pommatau, E (1954). Le pseudo-panhypopituitarisme par insuffisiences associees ovarienne, thyroidienne, et semenale. Ann Endocrinol 15, 327–332Google Scholar

Healy, D L (1994). Occult ovarian failure. Curr Ther Endocrinol Metab 5, 198–199Google Scholar PubMed

Hirokawa, H, Okano, Y, Asada, M et al. (1999). Molecular basis for phenotypic heterogeneity in galactosaemia: prediction of clinical phenotype from genotype in Japanese patients. Eur J Hum Genet 7, 757–764CrossRef Google Scholar PubMed

Hoek, A, Schoemaker, J, Drexhage, H A (1997). Premature ovarian failure and ovarian autoimmunity. Endocr Rev 18, 107–134Google Scholar PubMed

Huhtaniemi, I, Yamamoto, M, Ranta, T et al. (1987). Follicle stimulating hormone receptors appear earlier in the primate testis than in the ovary. J Clin Endocrinol Metab 65, 1210–1214CrossRef Google Scholar PubMed

Jacobs, P A (1991). Fragile X syndrome. J Med Genet 28, 809–810CrossRef Google Scholar PubMed

Jick, H, Porter, J, Morrison, A S (1997). Relation between smoking and age of natural menopause. Lancet ⅰ, 1354–1355Google Scholar

Jirasek J E (1976). Principles of reproductive embryology. In Disorders of Sexual Differentiation. Aetiology and Clinical Delineation, Simpson J L, ed., pp. 51–110. Academic Press, New York

Kaufman, F R, Devgan, S, Donnell, G N (1993). Results of a survey of carrier women for the galactosaemia gene. Fertil Steril 60, 727–728CrossRef Google Scholar PubMed

Kerr, J F R, Wyllie, A H, Currie, A R (1972). Apoptosis: a basic biological phenomenon with wide-ranging implications in tissue kinetics. Br J Cancer 26, 239–257CrossRef Google Scholar PubMed

Khastgir, G, Abdalla, H, Studd, J W (1994). The case against ovarian biopsy for the diagnosis of premature menopause. Br J Obstet Gynaecol 101, 96–98CrossRef Google Scholar

Koyama, H, Wada, T, Nishizaway, et al. (1977). Cyclophosphamide-induced ovarian failure and its therapeutic significance in patients with breast cancer. Cancer 39, 1403–14093.0.CO;2-8>CrossRef Google Scholar PubMed

Krauss, C, Turksoy, R N, Atkins, L et al. (1987). Familial premature ovarian failure due to an interstitial deletion of the long arm of the X chromosome. N Engl J Med 317, 125–131CrossRef Google Scholar

Lawson, C T, Toomes, C, Fryer, A et al. (1995). Definition of the blepharophimosis, ptosis, epicanthus inversus syndrome critical region at chromosome 3q23 based on the analysis of chromosomal anomalies. Hum Mol Genet 4, 963–967CrossRef Google Scholar PubMed

Layman, L C, Amde, S, Cohen, D P et al. (1998). The Finnish follicle stimulating hormone receptor gene mutation is rare in North American women with 46,XX ovarian failure. Fertil Steril 69, 300–302CrossRef Google Scholar PubMed

Li, P, Nijhawan, D, Budihardjo, I et al. (1997). Cytochrome c and dATP -dependent formation of Apaf-1/caspase-9 complex initiates an apoptotic protease complex. Cell 91, 479–489CrossRef Google Scholar

Liao, K L, Wood, N, Conway, G S (2000). Premature menopause and psychological well-being. J Psychosom Obstet Gynaecol 21, 167–74CrossRef Google Scholar PubMed

Lundberg, P O, Persson, V H (1969). Disappearance of amenorrhoea after thymectomy. A case report. Acta Soc Med Uppsala 74, 206–208Google Scholar PubMed

Luoh, S W, Bain, P A, Polakiewicz, R D et al. (1997). ZFX mutation results in small animal size and reduced germ cell number in male and female mice. Development 124, 2275–2284Google Scholar PubMed

Majno, G, Joris, I (1995). Apoptosis, oncosis, and necrosis. An overview of cell death. Am J Pathol 146, 3–15Google Scholar PubMed

Mattison, D R, Evans, M I, Schwimmer, W B et al. (1984). Familial premature ovarian failure. Am J Hum Genet 36, 1341–1348Google Scholar PubMed

May, J M, McCarty, K, Reichert, L E et al. (1980). Follicle stimulating-hormone-mediated induction of functional luteinising/human chorionic gonadotrophin receptors during monolayer of porcine granulosa cells. Endocrinol 107, 1041–1049CrossRef Google Scholar

McCurrah, M E, Connor, T M, Knudson, C M et al. (1997). Bax-deficiency promotes drug resistance and oncogenic transformation by attenuating p53-dependent apoptosis. Proc Natl Acad Sci USA 94, 2345–2349CrossRef Google Scholar

McGrath, S A, Esquela, A F, Lee, S J (1995). Oocyte-specific expression of growth/differentiation factor-9. Mol Endocrinol 9, 131–136Google Scholar PubMed

McKinlay, S, Jeffreys, M, Thompson, B (1972). An investigation of age of menopause. J Biosoc Sci 4, 161–173CrossRef Google Scholar

Meyers, C M, Boughman, J A, Rivas, M et al. (1996). Gonadal (ovarian) dysgenesis in 46,XX individuals: frequency of the autosomal recessive form. Am J Med Genet 63, 518–5243.0.CO;2-K>CrossRef Google Scholar PubMed

Morita, Y, Perez, G I, Paris, F et al. (2000). Oocyte apoptosis is suppressed by disruption of the acid sphingomyelinase gene or by sphingosine-1-phosphate therapy. Nat Med 6, 1109–1114CrossRef Google Scholar PubMed

Murphy, M, McHugh, B, Tighe, O et al. (1999). Genetic basis of transferase-deficient galactosaemia in Ireland and the population history of the Irish Travellers. Eur J Hum Genet 7, 549–554CrossRef Google Scholar PubMed

Murray, A (2000). Premature ovarian failure and the FMR1 gene. Semin Reprod Med 18, 59–66CrossRef Google Scholar PubMed

Nagamine, K, Peterson, P, Scott, H S et al. (1997). Positional cloning of the APECED gene. Nat Genet 17, 393–397CrossRef Google Scholar PubMed

Neufeld, M, Maclaren, N K, Blizzard, R M (1981). Two types of autoimmune Addison's disease associates with different polyglandular autoimmune (PGA) syndromes. Medicine 60, 355–362CrossRef Google Scholar

Nicosia, S V, Matus-Ridley, M, Meadows, A T (1985). Gonadal effects of cancer therapy in girls. Cancer 55, 2364–23723.0.CO;2-E>CrossRef Google Scholar PubMed

Ogilvy-Stuart, A L, Shalet, S M (1993). Effect of radiation on the human reproductive system. Environ Health Perspect 101, 109–116CrossRef Google Scholar PubMed

Oley, C, Baraitser, M (1988). Blepharophimosis, ptosis epicanthus inversus syndrome (BPES). J Med Genet 25, 47–51CrossRef Google Scholar

Page, D C, Mosher, R, Simpson, E M et al. (1987). The sex determining region of the Y chromosome encodes a finger protein. Cell 51, 1091–1104CrossRef Google Scholar

Pasquino, A, Passeri, F, Pucarelli, I et al. (1997). Spontaneous pubertal development in Turner's syndrome. J Clin Endocrinol Metab 82, 1810–1813Google Scholar PubMed

Patel, T, Gores, G J, Kaufmann, S H (1996). The role of proteases during apoptosis. FASSEB J 10, 587–597CrossRef Google Scholar PubMed

Perez, G I, Robles, R, Knudson, C M et al. (1999). Prolongation of ovarian lifespan into advanced chronological age by Bax-deficiency. Nat Genet 21, 200–203CrossRef Google Scholar PubMed

Phelan, J P, Upton, R T, Summitt, R L (1977). Balanced reciprocal X-4 translocation in a female patient with early secondary amenorrhoea. Am J Obstet Gynecol 129, 607–613CrossRef Google Scholar

Polansky, S, Papp, E W (1976). Pregnancy associated with hypergonadotropic hypogonadism. Obstet Gynecol 47, 47S–51SGoogle Scholar PubMed

Powell, C M, Taggart, R T, Drumheller, T C et al. (1994). Molecular and cytogenetic studies of an X: autosome translocation in a patient with premature ovarian failure and a review of the literature. Am J Med Genet 52, 19–26CrossRef Google Scholar

Prueitt, R L, Ross, J L, Zinn, A R (2000). Physical mapping of nine Xq translocation breakpoints and identification of XPNPEP2 as a premature ovarian failure candidate gene. Cytogenet Cell Genet 89, 44–50CrossRef Google Scholar PubMed

Rebar, R W, Connolly, H V (1996). Clinical features of young women with hypergonadotrophic amenorrhoea. Fertil Steril 53, 804–810CrossRef Google Scholar

Reichardt, J K, Woo, S L (1991). Molecular basis of galactosemia: mutations and polymorphisms in the gene encoding human galactose-1—phosphate uridylyltransferase. Proc Natl Acad Sci USA 88, 2633–2637CrossRef Google Scholar PubMed

Richardson, S J, Senikas, V, Nelson, J F (1987). Follicular depletion during the menopausal transition: evidence for accelerated loss and ultimate exhaustion. J Clin Endocrinol Metab 65, 1231–1236CrossRef Google Scholar PubMed

Robinson, A C, Dockeray, C J, Cullen, M J et al. (1984). Hypergonadotrophic hypogonadism in classical galactosaemia: evidence of defective oogenesis. Case report. Br J Obstet Gynaecol 91, 199–200CrossRef Google Scholar PubMed

Sala, C, Arrigo, G, Torri, G et al. (1997). Eleven X chromosome breakpoints associated with premature ovarian failure map to a 15-Mb YAC contig spanning Xq21. Genomics 40, 123–131CrossRef Google Scholar PubMed

Sardharwalla, I B, Wraith, J E (1987). Galactosaemia. Nutr Health 5, 175–188CrossRef Google Scholar PubMed

Sarto, G E (1974). Cytogenetics of fifty patients with primary amenorrhoea. Am J Obstet Gynecol 119, 14–23CrossRef Google Scholar

Sarto, G E, Therman, E, Patau, K (1973). X inactivation in man: a woman with t(Xq;12q+). Am J Hum Genet 25, 262–270Google Scholar

Sayle, A E, Cooper, G S, Savitz, D A (1996). Menstrual and reproductive history of mothers of galactosaemic children. Fertil Steril 65, 534–538CrossRef Google Scholar

Shalet, S M, Beardwell, C G, Morris-Jones, P H et al. (1976). Ovarian failure following abdominal irradiation in childhood. Br J Cancer 33, 655–658CrossRef Google Scholar PubMed

Shelling, A N, Burton, K A, Chand, A L et al. (2000). Inhibin: a candidate gene for premature ovarian failure. Hum Reprod 15, 2644–2649CrossRef Google Scholar PubMed

Shih, L Y, Suslak, L, Rosin, I et al. (1984). Gene dosage studies supporting localisation of the structural gene for galactose-1-phosphate uridyl transferase (GALT) to band p13 of chromosome 9. Am J Med Genet 19, 539–543CrossRef Google Scholar

Sicinski, P, Donaher, J L, Geng, Y et al. (1996). Cyclin D2 is an FSH-responsive gene involved in gonadal cell proliferation and oncogenesis. Nature 384, 470–474CrossRef Google Scholar PubMed

Simon, A, Goodenough, D, Li, E et al. (1996). Female infertility in mice lacking connexin 37. Nature 385, 525–529CrossRef Google Scholar

Simpson, J L (1975). Gonadal dysgenesis and abnormalities of the human sex chromosomes: current status of phenotypic karyotypic correlations. Birth Defects 11, 23–59Google Scholar PubMed

Simpson J L (1987). Genetic control of sexual development. In Advances in Fertility and Sterility Vol. 3: Releasing Hoemones and Genetics and Immunology in Human Reproduction, Ratnam S S, Teoh E S eds., pp. 165–173. [Proceedings of the 12th World Congress on Fertility and Sterility, 1986] Parthenon Press, Lancaster, UK

Sinclair, A H, Berta, P, Palmer, M S et al. (1990). A gene from the human sex-determining region encodes a protein with homology to a conserved DNA binding motif. Nature 346, 240–244CrossRef Google Scholar PubMed

Singh, R P, Carr, D H (1966). The anatomy and histology of XO human embryos and fetuses. Anat Rec 155, 369–383CrossRef Google Scholar PubMed

Siris, E S, Leventhal, B G, Vaitukaitis, J L (1976). Effects of childhood leukaemia and chemotherapy on puberty and reproductive function in girls. N Engl J Med 294, 1143–1146CrossRef Google Scholar PubMed

Strobel, T, Tai, Y T, Korsmeyer, S et al. (1998). BAD partly reverses paclitaxel resistance in human ovarian cancer cells. Oncogene 17, 2419–2427CrossRef Google Scholar PubMed

Summitt R L, Tipton R E, Wilroy R S et al. (1978). X-autosome translocations: A review. In Sex Differentiation and Chromosomal Abnormalities, Summitt R L, Bergsma D, eds., pp. 219–247. Alan R. Liss, for the National Foundation-March of Dimes 1978 BD:OAS XIV 6C

Takebayashi, K, Takakura, K, Wang, H Q et al. (2000). Mutation analysis of the growth differentiation factor-9 and-9B genes in patients with premature ovarian failure and polycystic ovary syndrome. Fertil Steril 74, 976–979CrossRef Google Scholar PubMed

Tapanainen, J S, Aittomaki, K, Min, J et al. (1997). Men homozygous for an inactivating mutation of the follicle stimulating hormone (FSH) receptor gene present variable suppression of spermatogenesis and fertility. Nat Genet 15, 205–206CrossRef Google Scholar PubMed

Taylor A E, Schneyer A L, Sluss P M et al. (1993). Ovarian failure, resistance and activation. In The Ovary, Adashi E Y, Leung C K, eds., pp. 629–635. Raven, New York

Tharapel, A T, Erson, K P, Simpson, J L et al. (1993). Deletion (X) (q26.1-q28) in a proband and her mother: molecular characterisation and phenotypic—karyotypic deductions. Am J Hum Genet 52, 463–471Google Scholar

Therman, E, Susman, B (1990). The similarity of phenotypic effects caused by Xp and Xq deletions in the human female: a hypothesis. Hum Genet 85, 175–183CrossRef Google Scholar PubMed

Therman, E, Laxova, R, Susman, B (1990). The critical region on the human Xq: effects caused by Xp and Xq deletions in the human female: a hypothesis. Hum Genet 85, 455–461Google Scholar PubMed

Toomes, C, Dixon, M J (1998). Refinement of a translocation breakpoint associated with blepharophimosis-ptosis-epicanthus inversus syndrome to a 280-kb interval at chromosome 3q23. Genomics 53, 308–314CrossRef Google Scholar PubMed

Twigg, S, Wallman, L, McElduff, A (1996). The resistant ovary syndrome in a patient with galactosaemia: a clue to the natural history of ovarian failure. J Clin Endocrinol Metab 81, 1329–1331Google Scholar

Tyfield, L, Reichardt, J, Fridovich-Keil, J et al. (1999). Classical galactosaemia and mutations at the galactose-1-phosphate uridyl transferase (GALT) gene. Hum Genet 13, 417–430Google Scholar PubMed

Vale, W, Rivier, C, Hsueh, A et al. (1988). Chemical and biological characterisation of the inhibin family of proteins. Rec Prog Horm Res 44, 1–21Google Scholar

Kasteren, Y M, Schoemaker, J (1999). Premature ovarian failure: a systematic review on therapeutic interventions to restore ovarian function and achieve pregnancy. Hum Reprod Update 5, 483–492CrossRef Google Scholar PubMed

Kasteren, Y M, Hundscheid, R D L, Smits, F P M et al. (1999a). Familial idiopathic premature ovarian failure: an overrated and underestimated genetic disease?Hum Reprod 14, 2455–2459CrossRef Google Scholar

Kasteren, Y M, Braat, D D et al. (1999b). Corticosteroids do not influence ovarian responsiveness to gonadotropins in patients with premature ovarian failure: a randomized, placebo-controlled trial. Fertil Steril 71, 90–95CrossRef Google Scholar

Vegetti, W, Tibiletti, M, Testa, G et al. (1998). Inheritance in idiopathic premature ovarian failure: analysis of 71 cases. Hum Reprod 13, 1796–1800CrossRef Google Scholar PubMed

Veneman, T F, Beverstock, G C, Exalto, N et al. (1991). Premature menopause of an inherited deletion in the long arm of the X chromosome. Fertil Steril 55, 631–634CrossRef Google Scholar

Vermulen, A (1993). Environment, human reproduction, menopause and andropause. Environ Health Perspect 101, 91–100CrossRef Google Scholar

Waggoner, D D, Buist, N R, Donnell, G N (1990). Long-term prognosis in galactosaemia: results of a survey of 350 cases. J Inherit Metab Dis 13, 802–818CrossRef Google Scholar PubMed

Wheatcroft, N J, Weetman, A P (1997). Is premature ovarian failure an autoimmune disease?Autoimmunity 25, 157–165CrossRef Google Scholar PubMed

Wheatcroft, N J, Toogood, A A, Li, T C et al. (1994). Detection of antibodies to ovarian antigens in women with premature ovarian failure. Clin Exp Immunol 96, 122–128CrossRef Google Scholar PubMed

Yang, E, Korsmeyer, S J (1996). Molecular thanatopsis: a discourse on the BCL-2 family and cell death. Blood 88, 386–401Google Scholar PubMed

Zara, C, Bulgarelli, C, Montanari, L (1987). Laparoscopic ovarian biopsy in hypergonadotropic amenorrhea. Acta-Eur-Fertil 18, 49–53Google Scholar PubMed

Zou, H, Henzel, W J, Liu, X et al. (1997). Apaf-1, a human protein homologous to C. elegans CED-4, participates in cytochrome c-dependent activation of caspase-3. Cell 90, 405–413CrossRef Google Scholar

Zinn, A R, Page, D C, Fisher, E M (1993). Turner's syndrome: the case of the missing sex chromosome. Trends in Genet 9, 90–93CrossRef Google Scholar PubMed

Zinn, A R, Tonk, V S, Chen, Z et al. (1998). Evidence for a Turner syndrome locus or loci at Xp11.2-p22.1. Am J Hum Genet 63, 1757–1766CrossRef Google Scholar PubMed

Zolotogora, J, Sagi, M, Cohen, T (1983). The blepharophimosis, ptosis, and epicanthus inversus syndrome: delineation of two types. Am J Hum Genet 35, 1020–1027Google Scholar

Accessibility standard: Unknown

Why this information is here

This section outlines the accessibility features of this content - including support for screen readers, full keyboard navigation and high-contrast display options. This may not be relevant for you.

Accessibility Information

Accessibility compliance for the PDF of this chapter is currently unknown and may be updated in the future.