Hypopituitarism in Children. Modern Laboratory and Genetic Diagnosis

Ye.V. Hloba

Abstract


The lecture presents the current international guidelines on the diagnosis of hypopituitarism in children, in particular the rules of stimulation tests for the diagnosis of growth hormone deficiency, secondary hypogonadism and hypocorticism. It is recommended to use the anti-Müllerian hormone and inhibin B to diagnose different forms of hypogonadism. Genetic methods are also recommended to make a correct diagnosis, to prescribe a proper treatment and to provide a medical and genetic counseling of family members.


Keywords


hypopituitarism; growth hormone deficiency; hypogonadism; genetic diagnosis.

References


Murray P.G., Dattani M.T., Clayton P.E. Controversies in the diagnosis and management of growth hormone deficiency in childhood and adolescence // Arch. Dis. Child. — 2016. — ​Vol. 101. — ​Р. 96-100.

Reh C.S., Geffner M. Somatotropin in the treatment of growth hormone deficiency and Turner syndrome in pediatric patients: a review // Clinical Pharmacology: Advances and Applications. — 2010. — ​Vol. 2. — ​Р. 111-122.

Федеральные клинические рекомендации по диагностике и лечению гипопитуитаризма у детей и подростков / Российское общество эндокринологов. — 2013. — 43 с.

Kuczmarski R.J., Ogden C.L., Grummer-Strawn L.M. et al. CDC growth charts: United States // Vital and Health Statistics. — 2000. — ​Vol. 314. — ​Р. 1-27.

Greulich W., Pyle S. Radiographic Atlas of Skeletal Development of the Hand and Wrist. — ​Stanford: Stanford University Press, 1959.

Ergun-Longmire B., Wajnrajch M. Growth and Growth Di­sorders. — 2013.

Rakover Y., Lavi I., Masalah R. et al. Comparison between four immunoassays for growth hormone (GH) measurement as guides to clinical decisions following GH provocative tests // J. Pediatr. Endocrinol. Metab. — 2000. — ​Vol. 13. — ​Р. 637-43.

Arsene C.G., Kratzsch J., Henrion A. Mass spectrometry — ​an alternative in growth hormone measurement // Bioanalysis. — 2014. — ​Vol. 6. — ​Р. 2391-402.

Lazar L., Phillip M. Is sex hormone priming in peripubertal children prior to growth hormone stimulation tests still appropriate? // Horm. Res Paediatr. — 2010. — ​Vol. 73(4). — ​Р. 299-302.

Marin G., Domene H.M., Barnes K.M. et al. The effects of estrogen priming and puberty on the growth hormone response to standardized treadmill exercise and arginine-insulin in normal girls and boys // J. Clin. Endocrinol. Metab. — 1994. — ​Vol. 79. — ​Р. 537-41.

Consensus Guidelines for the Diagnosis and Treatment of Growth Hormone (GH) Deficiency in Childhood and Adolescence: Summary Statement of the GH Research Society // The Journal of Clinical Endocrinology and Metabolism. — 2000. — ​Vol. 85(11). — ​Р. 3990-93.

Абатуров О.Є., Агафонова О.О., Герасименко О.М. Захворювання гіпофізарно-надниркової системи у дітей. — 2013. — 206 с.

Cogan J.D., Wu W., Phillips J.A. et al. The PROP12-base pair deletion is a common cause of combined pituitary hormone deficiency // J. Clin. Endocrinol. Metab. — 1998. — ​Vol. 83. — ​Р. 3346-3349.

Rodriguez R., Andersen B. Cellular determination in the anterior pituitary gland: PIT‑1 and PROP‑1 mutations as causes of human combined pituitary hormone deficiency // Minerva Endocrinol. — 2003. — ​Vol. 28. — ​Р. 123-133.

De Graaff L.C., Argente J., Veenma D.C. et al. PROP1, HESX1, POU1F1, LHX3 and LHX4 mutation and deletion screening and GH1 P89L and IVS3+1/+2 mutation screening in a Dutch nationwide cohort of patients with combined pituitary hormone deficiency // Horm. Res Paediatr. — 2010. — ​Vol. 73. — ​Р. 363-371.

Böttner A., Keller E., Kratzsch J. et al. PROP1mutations cause progressive deterioration of anterior pituitary function including adrenal insufficiency: a longitudinal analysis // J. Clin. Endocrinol. Metab. — 2004. — ​Vol. 89. — ​Р. 5256-5265.

Mendonca B.B., Osorio M.G., Latronico A.C. et al. Longitudinal hormonal and pituitary imaging changes in two females with combined pituitary hormone deficiency due to deletion of A301, G302 in the PROP1 gene // J. Clin. Endocrinol. Metab. — 1999. — ​Vol. 84. — ​Р. 942-945.

Wu W., Cogan J.D., Pfaffle R.W. et al. Mutations in PROP1 cause familial pituitary hormone deficiency // Nat. Ge­net. — 1998. — ​Vol. 18. — ​Р. 147-149.

Fofanova O., Takamura N., Kinoshita E., Yamashita S. et al. Compound heterozygous deletion of the PROP‑1 gene in children with combined pituitary hormone deficiency // J. Clin. Endocrinol. Metab. — 1998. — ​Vol. 83. — ​Р. 2601-2604.

Lemos M.C., Gomes L., Bastos M. et al. PROP1gene ana­lysis in Portuguese patients with combined pituitary hormone deficiency // Clin. Endocrinol. — 2006. — ​Vol. 65. — ​Р. 479-485.

Lebl J., Vosahlo J., Pfaeffle R.W. et al. Auxological and endocrine phenotype in a population-based cohort of patients with PROP1 gene defects // Eur. J. Endocrinol. — 2005. — ​Vol. 153. — ​Р. 389-396.

Brook C.G.D., Clayton P.E., Brown R.S. Brook’s clinical pediatric endocrinology. — 6th ed. — ​Singapore, Hong Kong: John Wiley, Sons, Ltd, 2009. — ​Р. 76.

Dattani M.T., Robinson I.C. The molecular basis for developmental disorders of the pituitary gland in man // Clin. Gene­tics. — 2000. — ​Vol. 57. — ​Р. 337-346.

Agarwal G., Bhatia V., Cook S., Thomas P.Q. Adrenocorticotropin deficiency in combined pituitary hormone deficiency patients homozygous for a novel PROP1 deletion // J. Clin. Endocrinol. Metab. — 2000. — ​Vol. 85. — ​Р. 4556-4561.

Dattani M.T. GH deficiency might be associated with normal height in PROP1 deficiency // Clin. Endocrinol. — 2002. — ​Vol. 57. — ​Р. 157-158.

Cushman L.J., Showalter A.D., Rhodes S.J. Genetic defects in the development and function of the anterior pituitary gland // Annals of Medicine. — 2002. — ​Vol. 34. — ​Р. 179-191.

Mody S., Brown M.R., Parks J.S. The spectrum of hypopituitarism caused by PROP1 mutations. Best Practice // Research Clin. Endocrinol. Metab. 2002. — ​Vol.16. — ​Р. 421-431.

Navardauskaite R., Dusatkova P., Obermannova B. et al. High prevalence of PROP1 defects in Lithuania: phenotypic findings in an ethnically homogenous cohort of patients with multiple pituitary hormone deficiency // J. Clin. Endocrin. Metab. First published ahead of print October 31, 2013 as doi:10.1210/jc.2013-3090.

Bonomi M., Libri D.V., Guizzardiet F. et al. New understandings of the genetic basis of isolated idiopathic central hypogonadism // Asian Journal of Andrology. — 2012. — ​Vol. 14(1). — ​Р. 49-56.

Федеральные клинические рекомендации (протоколы) по диагностике и лечению гипогонадизма у детей / Российское общество эндокринологов. — ​М., 2013. — 22 с.

Li H.W., Anderson R.A., Yeung W.S. et al. Evaluation of serum antimullerian hormone and inhibin B concentrations in the differential diagnosis of secondary oligoamenorrhea // Fertil. Ste­ril. — 2011. — ​Vol. 96. — ​Р. 774-779.

Harrington J., Palmert M.R. Distinguishing Constitutional Delay of Growth and Puberty from Isolated Hypogonadotropic Hypogonadism: Critical Appraisal of Available Diagnostic Tests // J. Clin. Endocrinol Metab. — 2012. — ​Vol. 97(9). — ​Р. 3056-3067.

Raivio T., Dunkel L. Inhibins in childhood and puberty // Best Pract. Res. Clin. Endocrinol. Metab. — 2002. — ​Vol. 16. — ​Р. 43-52.

Anderson R.A., Sharpe R.M. Regulation of inhibin production in the human male and its clinical applications // Int. J. Androl. — 2000. — ​Vol. 23. — ​Р. 136-144.

Raivio T., Saukkonen S., Jaaskelainen J. et al. Signaling between the pituitary gland and the testes: inverse relationship between serum FSH and inhibin B concentrations in boys in early puberty // Eur. J. Endocrinol. — 2000. — ​Vol. 142. — ​Р. 150-156.

Harrington J., Palmert M.R. Distinguishing Constitutio­nal Delay of Growth and Puberty from Isolated Hypogonadotropic Hypogonadism: Critical Appraisal of Available Diagnostic Tests // J. Clin. Endocrinol. Metab. — 2012. — ​Vol. 97(9). — ​P. 3056-3067.

Bianco Suzy D.C., Kaiser U.B. The genetic and molecular basis of idiopathic hypogonadotropic Hypogonadism // Nat. Rev. Endocrinol. — 2009. — ​Vol. 5(10). — ​Р. 569-576.




DOI: https://doi.org/10.22141/2224-0721.3.75.2016.76638

Refbacks

  • There are currently no refbacks.


Creative Commons License
This work is licensed under a Creative Commons Attribution 4.0 International License.

 

© "Publishing House "Zaslavsky", 1997-2017

 

 Яндекс.МетрикаSeo анализ сайта Рейтинг@Mail.ru