Mutations in the ghrelin receptor gene GHSR in congenital hypopituitarism

Bashnina E.B.; Berseneva O.S.; Glotov A.S.; Glotov O.S.; Turkunova M.E.; Serebryakova E.A.; Baranov V.S.

doi:https://doi.org/10.14341/probl201763298-102

Bashnina E.B.

GBOU DPO "Rossiĭskaia meditsinskaia akademiia poslediplomnogo obrazovaniia" Minzdrava Rossii, Moskva

Berseneva O.S.

North-Western State Medical University named after I.I. Mechnikov, Saint Petersburg, Russia

Glotov A.S.

The Research Institute of Obstetrics, Gynecology and Reproductology named after D.O. Ott, Saint Petersburg, Russia

Glotov O.S.

The Research Institute of Obstetrics, Gynecology and Reproductology named after D.O. Ott, Saint Petersburg, Russia

Turkunova M.E.

Children Endocrinology center, Saint Petersburg, Russia

Serebryakova E.A.

The Research Institute of Obstetrics, Gynecology and Reproductology named after D.O. Ott, Saint Petersburg, Russia

Baranov V.S.

The Research Institute of Obstetrics, Gynecology and Reproductology named after D.O. Ott, Saint Petersburg, Russia

Mutations in the ghrelin receptor gene GHSR in congenital hypopituitarism

Authors:

Bashnina E.B., Berseneva O.S., Glotov A.S., Glotov O.S., Turkunova M.E., Serebryakova E.A., Baranov V.S.

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Journal: Problems of Endocrinology. 2017;63(2): 98‑102

DOI: 10.14341/probl201763298-102

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Bashnina EB, Berseneva OS, Glotov AS, Glotov OS, Turkunova ME, Serebryakova EA, Baranov VS. Mutations in the ghrelin receptor gene GHSR in congenital hypopituitarism. Problems of Endocrinology. 2017;63(2):98‑102. (In Russ.)
https://doi.org/10.14341/probl201763298-102

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Abstract:

The results of molecular genetic studies indicate the potential involvement of ghrelin in the pathogenesis of some dwarfism forms. However, in the case of isolated somatotropin insufficiency, mutations in the ghrelin receptor gene are a rare cause of the disease. The article describes a case of identification, based on new generation sequencing (NGS) using the AmpliSeq technology, of a functionally significant marker ― the c.837C>A substitution in the ghrelin receptor gene GHSR (OMIM: 615925) in the heterozygous state in two sisters with isolated growth hormone deficiency and the clinical picture of malabsorption syndrome. We have supposed that mutations in the GHSR gene may be an etiological factor of isolated somatotropin insufficiency in a combination with malabsorption syndrome and eating disorders. Mutations in the GHSR gene enable predicting the development of somatotropin insufficiency not associated with abnormality of other pituitary hormones.

Keywords:

ghrelin receptor gene

isolated somatotropin insufficiency

congenital hypopituitarism

GHSR gene mutation

dwarfism

Authors:

Bashnina E.B.

GBOU DPO "Rossiĭskaia meditsinskaia akademiia poslediplomnogo obrazovaniia" Minzdrava Rossii, Moskva

Berseneva O.S.

North-Western State Medical University named after I.I. Mechnikov, Saint Petersburg, Russia

Glotov A.S.

The Research Institute of Obstetrics, Gynecology and Reproductology named after D.O. Ott, Saint Petersburg, Russia

Glotov O.S.

The Research Institute of Obstetrics, Gynecology and Reproductology named after D.O. Ott, Saint Petersburg, Russia

Turkunova M.E.

Children Endocrinology center, Saint Petersburg, Russia

Serebryakova E.A.

The Research Institute of Obstetrics, Gynecology and Reproductology named after D.O. Ott, Saint Petersburg, Russia

Baranov V.S.

The Research Institute of Obstetrics, Gynecology and Reproductology named after D.O. Ott, Saint Petersburg, Russia

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