Silver-Russell syndrome associated to Mayer-Rokitansky-Kuster-Hauser syndrome, diabetes and hirsutism

被引:11
作者
Bellver-Pradas J. [1 ,2 ]
Cervera-Sánchez J. [1 ,2 ]
Boldó-Roda A. [1 ,2 ]
Martín-Cortés A. [1 ]
Ferreres-Gómez L. [3 ]
Serra-Serra V. [2 ]
Romeu-Sarrió A. [1 ,2 ]
机构
[1] Department of Gynecologycal Endocrinology, Hospital Universitario la Fe, Mislata 46920, Valencia, Calle Regacho
[2] Department of P.O.G., Faculty of Medicine, University of Valencia
[3] Department of Gynecology, Hospital Universitario la Fe, Valencia
关键词
Diabetes; Hirsutism; Hyperinsulinism; Mayer-Rokitansky-Küster-Hauser; Silver-Russell;
D O I
10.1007/s004040100172
中图分类号
学科分类号
摘要
We report an unusual association of two rare conditions, the Silver-Russell syndrome and the Mayer-Rokitansky-Küster-Hauser syndrome, with extra endocrine anomalies. A 15-year old Silver-Russell syndrome girl was referred to our Unit because of primary amenorrhea and hirsutism of adrenal origin. A thorough assessment confirmed previous diagnoses and revealed the presence of diabetes, hyperinsulinism and a complete Mayer-Rokitansky-Küster-Hauser syndrome with an ectopic localization of both ovaries. Although initial medical treatment was not unsatisfactory, future medical, psychological and social implications are expected.
引用
收藏
页码:155 / 157
页数:2
相关论文
共 22 条
[1]  
Azcona C., Stanhope R., Absence of catch-down growth in Russell-Silver syndrome after short-term growth hormone treatment, Horm Res, 51, pp. 47-49, (1999)
[2]  
Bernard L.E., Penaherrera M.S., Van Allen M.I., Wang M.S., Yong S.L., Gareis F., Langlois S., Robinson W.P., Clinical and molecular findings in two patients with Russell-Silver syndrome and UPD7: Comparison with non-UPD7 cases, Am J Med Genet, 87, pp. 230-236, (1999)
[3]  
Boguszewski M., Jansson C., Rosberg S., Albertsson-Wikland K., Changes in serum insulin-like growth factor I (IGF-I) and IGF-binding protein-3 levels during growth hormone treatment in prepubertal short children born small for gestational age, J Clin Endocrinol Metab, 81, pp. 3902-3908, (1996)
[4]  
Chernausek S.D., Breen T.J., Frank G.R., Linear growth in response to growth hormone treatment in children with short stature associated with intrauterine growth retardation: The National Cooperative Growth Study experience, J Pediatr, 128, pp. 22-27, (1996)
[5]  
Giatras K., Licciardi F., Grifo J.A., Laparoscopy for pelvic pain in the Mayer-Rokitansky-Küster-Hauser syndrome. A case report, J Reprod Med, 43, pp. 203-205, (1998)
[6]  
Griffin J.E., Edwards C., Madden J.D., Harrod M.J., Wilson J.D., Congenital absence of the vagina. The Mayer-Rokitansky-Küster-Hauser syndrome, Ann Intern Med, 85, pp. 224-236, (1976)
[7]  
Hayashida S., Yamasaki K., Asada Y., Soeda E., Niikawa N., Kishino T., Construction of a physical and transcript map flanking the imprinted MEST/PEG1 region at 7q32, Genomics, 66, pp. 221-225, (2000)
[8]  
Kotzot D., Balmer D., Baumer A., Chrzanowska K., Hamel B.C., Ilyina H., Krajewska-Walasek M., Lurie I.W., Otten B.J., Schoenle E., Tariverdian G., Shinzel A., Maternal uniparental disomy 7 - Review and further delineation of the phenotype, Eur J Pediatr, 159, pp. 247-256, (2000)
[9]  
Kotzot D., Lurie I.W., Mehes K., Werder E., Schinzel A., No evidence of uniparental disomy 2, 6, 14, 16, 20 and 22 as a major cause of intrauterine growth retardation, Clin Genet, 58, pp. 177-180, (2000)
[10]  
Ludwig K.S., The Mayer-Rokitansky-Küster-Hauser syndrome. An analysis of its morphology and embryology. Part I: Morphology, Arch Gynecol Obstet, 262, pp. 1-26, (1998)