Noonan Syndrome: The hypothalamo-adrenal and hypothalamo-gonadal axes

Hormone Research

Volumn 72, Issue SUPPL. 2, 2009, Pages 24-30

  Kelnar, Christopher J H ^a  

^a UNIVERSITY OF EDINBURGH   (United Kingdom)

Author keywords

Adrenarche; Hypothalamo pituitary adrenal axis; Intrauterine growth retardation; Noonan syndrome; Pubertal development

Indexed keywords

ACTIVIN; CHORIONIC GONADOTROPIN; ESTROGEN; FOLLITROPIN; GONADORELIN; GONADOTROPIN; GROWTH HORMONE; INHIBIN B; LUTEINIZING HORMONE; MITOGEN ACTIVATED PROTEIN KINASE; MUELLERIAN INHIBITING FACTOR; PROTEIN TYROSINE PHOSPHATASE SHP 2; RAF PROTEIN; RAS PROTEIN; TESTOSTERONE;

ADRENARCHE; AZOOSPERMIA; BIRTH WEIGHT; BONE AGE; CELL MATURATION; CELL MIGRATION; CELL PROLIFERATION; CHILD DEVELOPMENT; CONFERENCE PAPER; CRYPTORCHISM; DELAYED PUBERTY; DISEASE ASSOCIATION; ESTROGEN THERAPY; FOLLITROPIN BLOOD LEVEL; GENE MUTATION; GENETIC IDENTIFICATION; GENETIC VARIABILITY; GERM CELL; GONADOTROPIN BLOOD LEVEL; GONADOTROPIN DEFICIENCY; GROWTH HORMONE BLOOD LEVEL; GROWTH HORMONE DEFICIENCY; HORMONE BLOOD LEVEL; HUMAN; HYPERGONADOTROPIC HYPOGONADISM; HYPOTHALAMUS HYPOPHYSIS ADRENAL SYSTEM; HYPOTHALAMUS HYPOPHYSIS GONAD SYSTEM; INTRAUTERINE GROWTH RETARDATION; LUTEINIZING HORMONE BLOOD LEVEL; MALE FERTILITY; MATURATION; NONHUMAN; NOONAN SYNDROME; OLIGOSPERMIA; PERINATAL DEVELOPMENT; PRIORITY JOURNAL; PUBERTY; SKIN EDEMA; SYNDROME X; TESTIS DEVELOPMENT; TESTOSTERONE BLOOD LEVEL; TURNER SYNDROME;

ADOLESCENT; ADRENAL GLANDS; ADRENARCHE; ADULT; CHILD; CHILD, PRESCHOOL; CRYPTORCHIDISM; FEMALE; GONADS; GROWTH DISORDERS; HUMANS; HYPOGONADISM; HYPOTHALAMUS; INFERTILITY, MALE; MALE; NOONAN SYNDROME; PUBERTY; TESTIS;

EID: 73849089645     PISSN: 03010163     EISSN: None     Source Type: Journal    
DOI: 10.1159/000243775     Document Type: Conference Paper

References (41)

1. van der Burgt I, Berends E, Lommen E, van Beersum S, Hamel B, Mariman E: Clinical and molecular studies in a large Dutch family with Noonan syndrome. Am J Med Genet 1994; 53: 187-191.
2. Sharland M, Burch M, McKenna WM, Paton MA: A clinical study of Noonan syndrome. Arch Dis Child 1992; 67: 178-183.
3. Ross JL, Shenkman L: Noonan's syndrome and hypopituitarism. Am J Med Sci 1980; 279: 47-52.
4. Kauschansky A, Eilam N, Elian E: LH-RH and HCG studies in a Turner phenotype male (Noonan's syndrome). A case report. Helv Paediatr Acta 1977; 32: 237-240.
5. Okuyama A, Nishimoto N, Yoshioka T, Namiki M, Itatani H, Takaha M, Mizutani S, Aono T, Matsumoto K, Sonoda T: Gonadal findings in cryptorchid boys with Noonan's phenotype. Eur Urol 1981; 274-277.
6. Theintz G, Savage MO: Growth and pubertal development in five boys with Noonan's syndrome. Arch Dis Child 1982; 57: 13-17.
7. Nistal M, Paniagua R, Pallardo LF: Testicular biopsy and hormonal study in a male with Noonan's syndrome. Andrologia 1983; 15: 415-425.
8. Meschede D, Froster UG, Gullotta F, Nieschlag E: Reproductive failure in a patient with neurofibromatosis-Noonan syndrome. Am J Med Genet 1993; 47: 346-351.
9. Sasagawa I, Nakada T, Kubota Y, Sawamura T, Tateno T, Ishigooka M: Gonadal function and testicular histology in Noonan's syndrome with bilateral cryptorchidism. Arch Androl 1994; 32: 135-440.
10. Elsawi MM, Pryor JP, Klufio G, Barnes C, Patton MA: Genital tract function in men with Noonan syndrome. J Med Genet 1994; 31: 468-470.
11. Ranke MB, Heidemann P, Knupfer C, Enders H, Schmaltz AA, Bierich JR: Noonan syndrome: growth and clinical manifestations in 144 cases. Eur J Pediatr 1988; 148: 220-227.
12. Nora JJ, Nora AH, Sinha AK, Spangler RD, Lubs HA: The Ullrich-Noonan syndrome (Turner phenotype). Am J Dis Child 1974; 127: 48-55.
13. Seminara SB, Oliveira LM, Beranova M, Hayes FJ, Crowley WF Jr: Genetics of hypogonadotropic hypogonadism. J Endocrinol Invest 2000; 23: 560-565.
14. Gracia J, Sánchez Zalabardo J, Sánchez García J, García C, Ferrández A: Clinical, physical, sperm and hormonal data in 251 adults operated on for cryptorchidism in childhood. BJU Int 2000; 85: 1100-1103.
15. Hadziselimovic F: Cryptorchidism, its impact on male fertility. Summary of the 4th International Symposium on Pediatric Andrology. Basel, Switzerland, November 10- 11, 2000. Horm Res 2001; 55: 55.
16. Crofton PM, Evans AE, Groome NP, Taylor MR, Holland CV, Kelnar CJ: Inhibin B in boys from birth to adulthood: relationship with age, pubertal stage, follicle stimulating hormone and testosterone. Clin Endocrinol (Oxf) 2002; 56: 215-221.
17. Wu FC, Butler GE, Kelnar CJ, Huhtaniemi I, Veldhuis JD: Ontogeny of pulsatile gonadotropin releasing hormone secretion from midchildhood, through puberty, to adulthood in the human male: a study using deconvolution analysis and an ultrasensitive immunofluorometric assay. J Clin Endocrinol Metab 1996; 81: 1798-1805.
18. Chemes HE: Infancy is not a quiescent period of testicular development. Int J Androl 2001;24:2-7.
19. Crofton PM, Evans AE, Wallace AM, Groome NP, Kelnar CJ: Nocturnal secretory dynamics of inhibin B and testosterone in pre- and peripubertal boys. J Clin Endocrinol Metab 2004; 89: 867-874.
20. Crofton PM, Evans AEM, Groome NP, Taylor MR, Holland CV, Kelnar CJ: Dimeric inhibins in girls from birth to adulthood: relationship with age, pubertal stage, FSH and oestradiol. Clin Endocrinol (Oxf) 2002; 56: 223-230.
21. Jensen TK, Andersson AM, Hjollund NH, et al: Inhibin B as a serum marker of spermatogenesis: correlation to differences in sperm concentration and follicle-stimulating hormone levels. A study of 349 Danish men. J Clin Endocrinol Metab 1997; 82: 4059-4063.
22. Marcus KA, Sweep CG, van der Burgt I, Noordam C: Impaired Sertoli cell function in males diagnosed with Noonan syndrome. J Pediatric Endo Metab 2008; 21: 1079-1084.
23. Saez JM, Morera AM, Bertrand J: Testicular endocrine function in males with Noonan's syndrome. Lancet 1969; 2: 1078-1079.
24. Tartaglia M, Mehler EL, Goldberg R, et al: Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome. Nat Genet 2001; 29: 465-468.
25. Fragale A, Tartaglia M, Wu J, Gelb BD: Noonan syndrome-associated SHP2/PTPN11 mutants cause EGF-dependent prolonged GAB1 binding and sustained ERK2/MAPK1 activation. Hum Mutat 2004; 23: 267-277.
26. Li J, Xia F, Li WX: Coactivation of STAT and Ras is required for germ cell proliferation and invasive migration in Drosophila. Dev Cell 2003; 5: 787-798.
27. Wu FC, Butler GE, Kelnar CJ, Stirling HF, Huhtaniemi I: Patterns of pulsatile luteinizing hormone and follicle stimulating hormone secretion in prepubertal (midchildhood) boys and girls and patients with idiopathic hypogonadotropic hypogonadism (Kallmann's syndrome): a study using an ultrasensitive time-resolved immunofluorometric assay. J Clin Endocrinol Metab 1991; 72: 1229-1237.
28. Wu FC, Butler GE, Kelnar CJH, Sellar RE: Patterns of pulsatile LH secretion before and during the onset of puberty in boys-a study using an immunoradiometric assay. J Clin Endocrinol Metab 1990; 70: 629-637.
29. Lee PA, Kowarski A, Migeon CJ, Blizzard RM: Lack of correlation between gonadotropin and adrenal androgen levels in agonadal children. J Clin Endocrinol Metab 4197; 50: 664-669.
30. Grumbach MM, Richards GE, Conte FA, Kaplan SL: Clinical disorders of adrenal function and puberty: an assessment of the role of the adrenal cortex in normal and abnormal puberty in man and evidence for an ACTH-like pituitary adrenal androgen stimulating hormone; in James VHT, Giusti MS, Giusti G, Martini L (eds): The Endocrine Function of the Human Adrenal Cortex: Proceedings of the Serono Symposia. New York, Academic Press, 1978, pp 583-612.
31. Cohen HN, Paterson KR, Wallace AM, Beastall GH, Manderson WG, McCuish AC: Dissociation of adrenarche and gonadarche in diabetes mellitus. Clin Endocrinol (Oxf) 1984; 20: 717-724.
32. Hay ID, Smail PJ, Forsyth CC: Familial cytomegalic adrenocortical hypoplasia: an Xlinked syndrome of pubertal failure. Arch Dis Child 1981; 56: 715-721.
33. Ibanez L, Dimartino-Nardi J, Potau N, Saenger P: Premature adrenarche-normal variant or forerunner of adult disease? Endocr Rev 2000; 21: 671-696.
34. Witt DR, Keena BA, Hall JG, Allanson JE: Growth curves for height in Noonan syndrome. Clin Genet 1986; 30: 150-153.
35. Shaw AC, Kalidas K, Crosby AH, Jeffery S, Patton MA: The natural history of Noonan syndrome: a long-term follow-up study. Arch Dis Child 2007; 92: 128-132.
36. Buckler JMH: A Longitudinal Study of Adolescent Growth. London, Springer, 1990.
37. Kelnar CJ, Stanhope R: Height prognosis in girls with central precocious puberty treated with GnRH analogues. Clin Endocrinol (Oxf) 2002; 56: 295-296.
38. Nussbaum II, Keller E, Hermanussen M: Estimating target height-an analysis of 954 young adults. Clin Endo 2002; 58(suppl 2):203-259.
39. Hermanussen M, Cole T: The calculation of target height reconsidered. Horm Res 2003; 59: 180-183.
40. Kelnar CJ: Treatment of the short, sexually immature adolescent boy. Arch Dis Child 1994; 71: 285-287.
41. Kelnar CJH: Noonan syndrome; in Ranke MB, Price DA, Reiter EO (eds): Growth Hormone Therapy in Pediatrics-20 Years of KIGS. Basel, Karger, 2007, pp 340-346.