The role of molecular genetics in diagnostics and treatment of endocrine diseases. Brief characteristic of monogenic forms of hereditary endocrinopathies diagnosed in Endocrinological Research Centre during the 15 year period (1996-2010)

Tiul'pakov A.N.

doi:https://doi.org/

Tiul'pakov A.N.

Éndokrinologicheskiĭ nauchnyĭ tsentr, Moskva

The role of molecular genetics in diagnostics and treatment of endocrine diseases. Brief characteristic of monogenic forms of hereditary endocrinopathies diagnosed in Endocrinological Research Centre during the 15 year period (1996-2010)

Authors:

Tiul'pakov A.N.

More about the authors

Journal: Problems of Endocrinology. 2011;57(1): 26‑34

Read: 2511 times

Download PDF (RU)

Contact the author

Table of contents

To cite this article:

Tiul'pakov AN. The role of molecular genetics in diagnostics and treatment of endocrine diseases. Brief characteristic of monogenic forms of hereditary endocrinopathies diagnosed in Endocrinological Research Centre during the 15 year period (1996-2010). Problems of Endocrinology. 2011;57(1):26‑34. (In Russ.)

Использование инфографики авторами научных работ

Close metadata

Recommended articles:

A role of transcription factors in pathogenic processes associated with schizophrenia. S.S. Korsakov Journal of Neurology and Psychiatry. 2024;(11):49-54

Biochemical features of migraine pathogenesis. S.S. Korsakov Journal of Neurology and Psychiatry. 2025;(4):21-26

The known and new ideas about the mechanism of action and the spectrum of effects of Mexidol. S.S. Korsakov Journal of Neurology and Psychiatry. 2025;(5):22-33

Abstract:

Recent years have witnessed great progress in molecular genetics leading to impressive breakthroughs in medical sciences at large and in endocrinology in particular. The objective of the present article is to summarize information on the cases of monogenic hereditary endocrinopathies verified in the Endocrinological Research Centre during the 15 year period (1996-2010). These data are based on the analysis of 36 different genes associated with endocrine pathologies, such as hereditary forms of hypopytuitarism, disturbances of steroid hormone biosynthesis, abnormal gender formation, monogenic forms of diabetes mellitus, endocrine tumours, etc. The importance of molecular-genetic investigations for the treatment and prevention of endocrine diseases is discussed.

Keywords:

genes

molecular diagnostics

monogenic diseases

hormones

receptors

transcription factors

Authors:

Tiul'pakov A.N.

Éndokrinologicheskiĭ nauchnyĭ tsentr, Moskva

Close metadata

References:

Fofanova O.V., Evgrafov O.V., Polyakov A.V. et al. A novel IVS2-2A>T splicing mutation in the GH-1 gene in familial isolated growth hormone deficiency type II in the spectrum of other splicing mutations in the Russian population. J Clin Endocrinol Metab 2003;88:2:820–826.
Dedov I.I., Tyul'pakov A.N., Peterkova V.A. i dr. Molekulyarnyi analiz gena CYP21 u patsientov s vrozhdennoi disfunktsiei kory nadpochechnikov, obuslovlennoi defitsitom 21-gidroksilazy. Probl endokrinol 2004;4:3-6.
Grischuk Y., Rubtsov P., Riepe F.G. et al. Four novel missense mutations in the CYP21A2 gene detected in Russian patients suffering from the classical form of congenital adrenal hyperplasia: identification, functional characterization, and structural analysis. J Clin Endocrinol Metab 2006;91:12:4976-4980.
Kalinchenko N.Yu., Tyul'pakov A.N., Petepkova V.A. i dr. Kliniko-gopmonal'naya i molekulyapnaya khapaktepistika vpozhdennoi disfunktsii kopy nadpochechnikov vsledstvie defitsita P450c11 (11β-gidpoksilaza): opisanie dvukh sluchaev zabolevaniya. Probl endokrinol 2003;3:39-41.
Tyul'pakov A.N., Kalinchenko N.Yu., Kalinchenko S.Yu. i dr. Klinicheskaya, gormonal'naya i molekulyarno-geneticheskaya kharakteristika nedostatochnosti P450s17 (17β-gidroksilaza/17,20-liaza). Probl endokrinol 2001;1:20-26.
Dzeranova L.K., Tyul'pakov A.N., Pigarova E.A. i dr. Novaya mutatsiya v gene CYP17: opisanie klinicheskogo sluchaya. Probl endokrinol 2006;6:41-44.
Melikyan M.A., Rubtsov P.M., Tyul'pakov A.N. Vrozhdennaya disfunktsiya kory nadpochechnikov, obuslovlennaya defitsitom 3β-gidroksisteroiddegidrogenazy: molekulyarno-geneticheskaya diagnostika i klinicheskie proyavleniya u dvukh raznopolykh sibsov. Probl endokrinol 2008;5:25-30.
Rubtsov P., Karmanov M., Sverdlova P. et al. A novel homozygous mutation in CYP11A1 gene is associated with late-onset adrenal insufficiency and hypospadias in a 46,XY patient. J Clin Endocrinol Metab 2009;94:3:936-939.
Kalinchenko N.Yu., Zubkova N.A., Tyul'pakov A.N. Klinicheskoe opisanie i molekulyarno-geneticheskaya verifikatsiya 2 sluchaev izolirovannoi mineralokortikoidnoi nedostatochnosti vsledstvie defitsita al'dosteronsintazy. Probl endokrinol 2009;1:28-31.
Kolodkina A.A., Kalinchenko N.Yu., Nizhnik A.N. i dr. Klinicheskaya, gormonal'naya i molekulyarno-geneticheskaya kharakteristiki dvukh sluchaev narusheniya formirovaniya pola (NFP) 46XY, obuslovlennogo defitsitom 17β-gidroksisteroiddegidrogenazy 3-go tipa. Probl endokrinol. V pechati.
Kolodkina A.A., Karmanov M.E., Kalinchenko N.Yu. i dr. Klinicheskaya, gormonal'naya i molekulyarno-geneticheskaya kharakteristiki trekh sluchaev narusheniya formirovaniya pola (NFP) 46XY, obuslovlennogo defitsitom 5β-reduktazy II tipa. Probl endokrinol 2010;3:34-40.
Tiulpakov A., Kalintchenko N., Semitcheva T. et al. A potential rearrangement between CYP19 and TRPM7 genes on chromosome 15q21.2 as a cause of aromatase excess syndrome. J Clin Endocrinol Metab 2005;90:7:4184-4190.
Dedov I.I., Zubkova N.A., Arbatskaya N.Yu. i dr. MODY tip 2: klinicheskie i molekulyarno-geneticheskie kharakteristiki 13 sluchaev zabolevaniya. Pervoe opisanie MODY v Rossii. Probl endokrinol 2009;3:3-7.
Vitebskaya A.V., Petryaikina E.E., Razumovskii A.Yu. i dr. Sluchai tyazhelogo neonatal'nogo giperparatireoza, obuslovlennyi defektom kal'tsii-sensornogo retseptora. Probl endokrinol 2010;4:27-33.
Peterkova V.A., Vasyukova O.V., Tyul'pakov A.N. Neimmunnyi tireotoksikoz, obuslovlennyi aktiviruyushchei mutatsiei gena retseptora tireotropnogo gormona (pervoe opisanie v Rossii). Probl endokrinol 2009;2:48-50.
Tiulpakov A., Orlovsky I., Kalintchenko N. et al. A case of growth hormone insensitivity (Laron syndrome) in a Russian girl of Slavic origin caused by a common mutation of the GH receptor gene. J Endocrinol Genet 1999;1:95-100.
Tiulpakov A., Rubtsov P., Dedov I. et al. A novel C-terminal growth hormone receptor (GHR) mutation results in impaired GHR-STAT5 but normal STAT-3 signaling. J Clin Endocrinol Metab 2005;90:1:542-547.
Inagaki K., Tiulpakov A., Rubtsov P. et al. A familial insulin-like growth factor-I receptor mutant leads to short stature: clinical and biochemical characterization. J Clin Endocrinol Metab 2007;92:4:1542-1548.
Novikova E.O., Rubtsov P.M., Sverdlova P.S., Tyul'pakov A.N. Klinicheskaya kharakteristika i molekulyarno-geneticheskaya verifikatsiya sindroma Freizera - lozhnogo muzhskogo germafroditizma i khronicheskogo glomerulonefrita (pervoe opisanie v Rossii). Probl endokrinol 2009;2:51-53.
Turton J.P., Reynaud R., Mehta A. et al. Novel mutations within the POU1F1 gene associated with variable combined pituitary hormone deficiency. J Clin Endocrinol Metab 2005;90:8:4762-4770.
Fofanova O., Takamura N., Kinoshita E. et al. Compound heterozygous deletion of the PROP-1 gene in children with combined pituitary hormone deficiency. J Clin Endocrinol Metab 1998;83:7:2601-2604.
Turton J.P., Mehta A., Raza J. et al. Mutations within the transcription factor PROP1 are rare in a cohort of patients with sporadic combined pituitary hormone deficiency (CPHD). Clin Endocrinol (Oxford) 2005;63:1:10-18.
Tyul'pakov A.N., Kalinchenko N.Yu. Klinicheskaya i molekulyarno-geneticheskaya kharakteristika 10 sluchaev vrozhdennoi gipoplazii nadpochechnikov, obuslovlennoi defektami faktora DAX1. Probl endokrinol 2010;2:3-9.
Orlova E.M., Bukina A.M., Kuznetsova E.S. et al. Autoimmune polyglandular syndrome type 1 in Russian patients: clinical variants and autoimmune regulator mutations. Horm Res Paediatr 2010;73:6:449-457.
Cihakova D., Trebusak K., Heino M. et al. Novel AIRE mutations and P450 cytochrome autoantibodies in Central and Eastern European patients with APECED. Hum Mutat 2001;18:3:225-232.
Tyul'pakov A.N., Kalinchenko N.Yu., Kareva M.A. i dr. Lipoidnaya giperplaziya nadpochechnikov, obuslovlennaya ranee neizvestnymi mutatsiyami gena STAR. Probl endokrinol 2006;5:21-25.
Tyul'pakov A.N., Rubtsov P.M., Shandin A.N. Semeinyi variant nefrogennogo nesakharnogo diabeta s chastichno sokhrannoi kontsentratsionnoi funktsiei pochek, obuslovlennyi gomozigotnoi mutatsiei D150E v gene akvaporina-2 (AQP2). Probl endokrinol 2007;5:15-18.
Guyon C., Lussier Y., Bissonnette P. et al. Characterization of D150E and G196D aquaporin-2 mutations responsible for nephrogenic diabetes insipidus: importance of a mild phenotype. Am J Physiol Renal Physiol 2009;297:2:F489-F498.
Dedov I.I., Tikhonovich Yu.V., Petryaikina E.E. i dr. Molekulyarno-geneticheskaya verifikatsiya i lechenie neonatal'nogo sakharnogo diabeta, obuslovlennogo defektami ATF-zavisimykh kalievykh kanalov: dannye nablyudeniya 9 bol'nykh i pervoe opisanie mutatsii gena ABCC8 v Rossii. Probl endokrinol. V pechati.