The site of the Media Sphera Publishers contains materials intended solely for healthcare professionals.
By closing this message, you confirm that you are a certified medical professional or a student of a medical educational institution.

Login
EN
+7 (495) 482-4118
+7 (495) 482-0604
+8 800 250-18-12
  • (toll-free number for subscriptions)
    Mon-Fri from 10 a.m. to 6 p.m.

  • © 1998-2025
+7 (495) 482-43-29
EN
All journals
Journal
Year
Year
Search result: 0

Gubaeva D.N.

Endocrinology Research Centre, Moscow, Russia

Orlova E.M.

FGU Éndokrinologicheskiĭ nauchnyĭ tsentr Minzdravsotsrazvitiia Rossiĭskoĭ Federatsii, Moskva

Pankratova M.S.

Éndokrinologicheskiĭ nauchnyĭ tsentr, Moskva

Vorontsov A.V.

FGU Éndokrinologicheskiĭ nauchnyĭ tsentr Minzdravsotsrazvitiia RF

Kareva M.A.

Institut detskoĭ éndokrinologii Éndokrinologicheskogo nauchnogo tsentra, Moskva

Hypopituitarism due to mutation in the PROP1 gene in association with the 47, XYY karyotype and autosomal dominant atrioventricular septal defect: two case reports

Authors:

Gubaeva D.N., Orlova E.M., Pankratova M.S., Vorontsov A.V., Kareva M.A.

More about the authors

Journal: Problems of Endocrinology. 2017;63(3): 174‑178

DOI: 10.14341/probl2017633174-178

Views: 806

Downloaded: 10

Download PDF (RU)
Contact the author
Table of contents

HYPOPITUITARISM DUE TO MUTATION IN THE PROP1 GENE IN ASSOCIATION WITH THE 47, XYY KARYOTYPE AND AUTOSOMAL DOMINANT ATRIOVENTRICULAR SEPTAL DEFECT: TWO CASE REPORTS
HYPOPITUITARISM DUE TO MUTATION IN THE PROP1 GENE IN ASSOCIATION WITH THE 47, XYY KARYOTYPE AND AUTOSOMAL DOMINANT ATRIOVENTRICULAR SEPTAL DEFECT: TWO CASE REPORTS

To cite this article:

Gubaeva DN, Orlova EM, Pankratova MS, Vorontsov AV, Kareva MA. Hypopituitarism due to mutation in the PROP1 gene in association with the 47, XYY karyotype and autosomal dominant atrioventricular septal defect: two case reports. Problems of Endocrinology. 2017;63(3):174‑178. (In Russ.)
https://doi.org/10.14341/probl2017633174-178

МСФ на ЯМ
Close metadata
Recommended articles:
Infi­ltrating Endo­metriosis of the Distal Part of Round Uterine Liga­ment and It’s Asso­ciation with Nuck’s Dive­rticulum (Literature Review and Case Report). Russian Journal of Human Reproduction. 2024;(2):112-121
Features of the clinical and neuroimaging picture in patients with early-onset Alzheimer’s disease. S.S. Korsakov Journal of Neurology and Psychiatry. 2024;(4-2):56-63
A case report of anti-NMDA rece­ptor ence­phalitis with mental disturbances mani­festation. S.S. Korsakov Journal of Neurology and Psychiatry. 2024;(5):142-144
Case of drug-induced pemphigus: difficulties of diagnosis. Russian Journal of Clinical Dermatology and Vene­reology. 2024;(3):264-268
Psoriasis exudativa in patient with here­ditary hemo­rrhagic tela­ngiectasia. Russian Journal of Clinical Dermatology and Vene­reology. 2024;(4):356-361
Kallmann syndrome in the practice of an obstetrician-gynecologist. Russian Journal of Human Reproduction. 2024;(4):106-111
Specifics of cancer dete­ction at the outpatient stage. A case report. Russian Journal of Preventive Medi­cine. 2024;(10):97-100
Clinical case: Hailey-Hailey disease or Darier’s disease?. Russian Journal of Clinical Dermatology and Vene­reology. 2024;(5):537-541
Hidradenitis suppurativa: a clinical case. Russian Journal of Clinical Dermatology and Vene­reology. 2024;(5):542-545
Psychopathological diso­rders at the onset of juve­nile parkinsonism in childhood. S.S. Korsakov Journal of Neurology and Psychiatry. 2024;(11-2):96-102

Application of genetic analysis in clinical practice enables identifying a combination of two rare diseases in one patient. We report two cases of patients with hypopituitarism due to PROP1 gene mutations in combination with the 47,XYY karyotype (case 1) and autosomal dominant partial atrioventricular septal defect (case 2). These clinical cases clearly demonstrate that several rare diseases can be present in one patient. The morphology of the pituitary gland has specific features in patients with a PROP1 gene mutation: signal inversion on T1- and T2-weighted images, as well as changes in size of the pituitary gland over time. In case of short stature, the hormonal evidence of secondary hypopituitarism, low IGF-1 levels, and specific morphological features observed in MRI images, we recommended carrying out molecular genetic analysis of the PROP1 gene without conducting growth hormone stimulation test.

Keywords:

hypopituitarism; PROP1; 47,XYY syndrome; atrioventricular septal defect; growth hormone deficiency; case report

Authors:

Gubaeva D.N.

Endocrinology Research Centre, Moscow, Russia

Orlova E.M.

FGU Éndokrinologicheskiĭ nauchnyĭ tsentr Minzdravsotsrazvitiia Rossiĭskoĭ Federatsii, Moskva

Pankratova M.S.

Éndokrinologicheskiĭ nauchnyĭ tsentr, Moskva

Vorontsov A.V.

FGU Éndokrinologicheskiĭ nauchnyĭ tsentr Minzdravsotsrazvitiia RF

Kareva M.A.

Institut detskoĭ éndokrinologii Éndokrinologicheskogo nauchnogo tsentra, Moskva

List of references:

  1. Riepe FG, Partsch CJ, Blankenstein O, et al. Longitudinal imaging reveals pituitary enlargement preceding hypoplasia in two brothers with combined pituitary hormone deficiency attributable to PROP1 mutation. J Clin Endocrinol Metab. 2001;86(9):4353-4357. https://doi.org/10.1210/jcem.86.9.7828
  2. Mody S, Brown MR, Parks JS. The spectrum of hypopituitarism caused by PROP1 mutations. Best Pract Res Clin Endocrinol Metab.2002;16(3):421-431. https://doi.org/10.1053/beem.2002.0218
  3. Fluck C, Deladoey J, Rutishauser K, et al. Phenotypic variability in familial combined pituitary hormone deficiency caused by a PROP1 gene mutation resulting in the substitution of Arg->Cys at codon 120 (R120C). J Clin Endocrinol Metab.1998;83(10):3727-3734. https://doi.org/10.1210/jcem.83.10.5172
  4. Fluck C, Deladoey J, Rutishauser K, et al. Phenotypic variability in familial combined pituitary hormone deficiency caused by a PROP1 gene mutation resulting in the substitution of Arg->Cys at codon 120 (R120C). J Clin Endocrinol Metab. 1998;83(10):3727-3734. https://doi.org/10.1210/jcem.83.10.5172
  5. Children and young adults with sex chromosome aneuploidy—follow-up, clinical and molecular studies. Minaki, Ontario, Canada, June 7-10, 1989. Birth Defects Orig Artic Ser. 1990;26(4):1-304.
  6. Margari L, Lamanna AL, Craig F, et al. Autism spectrum disorders in XYY syndrome: two new cases and systematic review of the literature. Eur J Pediatr. 2014;173(3):277-283. https://doi.org/10.1007/s00431-014-2267-9
  7. Ferencz C, Loffredo CA, Correa-Villasenor A, Wilson PD. Atrioventricular septal defects with and without Down syndrome. In: Ferencz C, Loffredo CA, Correa-Villasenor A, Wilson PD. Genetic & Environmental Risk Factors of Major Cardiovascular Malformations: the Baltimore-Washington Infant Study 1981–1989. Armonk: Futura Publishing. 1997;103-122.
  8. Obermannova B, Pfaeffle R, Zygmunt-Gorska A, et al. Mutations and pituitary morphology in a series of 82 patients with PROP1 gene defects. Horm Res Paediatr. 2011;76(5):348-354. https://doi.org/10.1159/000332693
  9. Jacobs PA, Melville M, Ratcliffe S, et al. A cytogenetic survey of 11,680 newborn infants. Ann Hum Genet. 1974;37(4):359-376.
  10. Morel F, Roux C, Bresson JL. Sex Chromosome Aneuploidies in Sperm of 47,XYY Men. Arch Androl. 2009;43(1):27-36. https://doi.org/10.1080/014850199262706
  11. El-Dahtory F, Elsheikha HM. Male infertility related to an aberrant karyotype, 47,XYY: four case reports. Cases J. 2009;2(1):28. https://doi.org/10.1186/1757-1626-2-28
  12. Wong EC, Ferguson KA, Chow V, Ma S. Sperm aneuploidy and meiotic sex chromosome configurations in an infertile XYY male. Hum Reprod. 2008;23(2):374-378. https://doi.org/10.1093/humrep/dem377
  13. Moretti E, Anichini C, Sartini B, Collodel G. Sperm ultrastructure and meiotic segregation in an infertile 47, XYY man. Andrologia. 2007;39(6):229-234. https://doi.org/10.1111/j.1439-0272.2007.00791.x
  14. Stochholm K, Juul S, Gravholt CH. Diagnosis and mortality in 47,XYY persons: a registry study. Orphanet J Rare Dis. 2010;5:15. https://doi.org/10.1186/1750-1172-5-15
  15. Craig B. Atrioventricular septal defect: from fetus to adult. Heart. 2006;92(12):1879-1885. https://doi.org/10.1136/hrt.2006.093344
  16. Wilson L, Curtis A, Korenberg JR, et al. A large, dominant pedigree of atrioventricular septal defect (AVSD): exclusion from the Down syndrome critical region on chromosome 21. Am J Hum Genet. 1993;53(6):1262-1268.
  17. Kumar A, Williams CA, Victorica BE. Familial atrioventricular septal defect: possible genetic mechanisms. Heart. 1994;71(1):79-81. https://doi.org/10.1136/hrt.71.1.79

Close metadata

Contact the author
Email
Message
The publishing house "Media Sphere" does not provide treatment services, does not give recommendations on contacting medical institutions and specific specialists, on the prescription of medicines and dietary supplements.

Email Confirmation

An email was sent to test@gmail.com with a confirmation link. Follow the link from the letter to complete the registration on the site.

Email Confirmation

Contact us
If you have any questions, complaints or suggestions, please use this feedback form.
Email
Message
The publishing house "Media Sphere" does not provide treatment services, does not give recommendations on contacting medical institutions and specific specialists, on the prescription of medicines and dietary supplements.
Submit Application

You can become an author of one of our magazines, send a request and we will consider it in during the day.

Name
Phone
E-mail
Message
Login
Registration
E-mail
Password
Forgot Password?

Log in to the site using your account in one of the services

Password recovery
E-mail
Login
Register

We use cооkies to improve the performance of the site. By staying on our site, you agree to the terms of use of cооkies. To view our Privacy and Cookie Policy, please. click here.