Cargando…

Hypogonadotropic Hypogonadism and Short Stature in Patients with Diabetes Due to Neurogenin 3 Deficiency

CONTEXT: Biallelic mutations in NEUROG3 are known to cause early-onset malabsorptive diarrhea due to congenital anendocrinosis and diabetes mellitus at a variable age. No other endocrine disorders have been described so far. We report four patients with homozygous NEUROG3 mutations who presented wit...

Descripción completa

Detalles Bibliográficos
Autores principales: Rubio-Cabezas, Oscar, Gómez, José Luis, Gleisner, Andrea, Hattersley, Andrew T., Codner, Ethel
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Endocrine Society 2016
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5052352/
https://www.ncbi.nlm.nih.gov/pubmed/27533310
http://dx.doi.org/10.1210/jc.2016-2319
_version_ 1782458217072164864
author Rubio-Cabezas, Oscar
Gómez, José Luis
Gleisner, Andrea
Hattersley, Andrew T.
Codner, Ethel
author_facet Rubio-Cabezas, Oscar
Gómez, José Luis
Gleisner, Andrea
Hattersley, Andrew T.
Codner, Ethel
author_sort Rubio-Cabezas, Oscar
collection PubMed
description CONTEXT: Biallelic mutations in NEUROG3 are known to cause early-onset malabsorptive diarrhea due to congenital anendocrinosis and diabetes mellitus at a variable age. No other endocrine disorders have been described so far. We report four patients with homozygous NEUROG3 mutations who presented with short stature and failed to show any signs of pubertal development. CASE DESCRIPTION: Four patients (two males, two females) were diagnosed with homozygous mutations in NEUROG3 on the basis of congenital malabsorptive diarrhea and diabetes. All four had severe short stature and failed to develop secondary sexual characteristics at an appropriate age, despite some having normal body mass index. The absence of gonadal function persisted into the third decade in one patient. Upon testing, both basal and stimulated LH and FSH levels were low, with the remaining pituitary hormones within the normal range. Magnetic resonance imaging scans of the hypothalamic-pituitary axis did not reveal structural abnormalities. A diagnosis of hypogonadotropic hypogonadism was made, and replacement therapy with sex hormones was started. CONCLUSIONS: The high reproducibility of this novel phenotype suggests that central hypogonadism and short stature are common findings in patients with mutations in NEUROG3. Growth rate needs to be carefully monitored in these patients, who also should be routinely screened for hypogonadism when they reach the appropriate age. NEUROG3 mutations expand on the growing number of genetic causes of acquired hypogonadotropic hypogonadism.
format Online
Article
Text
id pubmed-5052352
institution National Center for Biotechnology Information
language English
publishDate 2016
publisher Endocrine Society
record_format MEDLINE/PubMed
spelling pubmed-50523522016-10-18 Hypogonadotropic Hypogonadism and Short Stature in Patients with Diabetes Due to Neurogenin 3 Deficiency Rubio-Cabezas, Oscar Gómez, José Luis Gleisner, Andrea Hattersley, Andrew T. Codner, Ethel J Clin Endocrinol Metab Special Features CONTEXT: Biallelic mutations in NEUROG3 are known to cause early-onset malabsorptive diarrhea due to congenital anendocrinosis and diabetes mellitus at a variable age. No other endocrine disorders have been described so far. We report four patients with homozygous NEUROG3 mutations who presented with short stature and failed to show any signs of pubertal development. CASE DESCRIPTION: Four patients (two males, two females) were diagnosed with homozygous mutations in NEUROG3 on the basis of congenital malabsorptive diarrhea and diabetes. All four had severe short stature and failed to develop secondary sexual characteristics at an appropriate age, despite some having normal body mass index. The absence of gonadal function persisted into the third decade in one patient. Upon testing, both basal and stimulated LH and FSH levels were low, with the remaining pituitary hormones within the normal range. Magnetic resonance imaging scans of the hypothalamic-pituitary axis did not reveal structural abnormalities. A diagnosis of hypogonadotropic hypogonadism was made, and replacement therapy with sex hormones was started. CONCLUSIONS: The high reproducibility of this novel phenotype suggests that central hypogonadism and short stature are common findings in patients with mutations in NEUROG3. Growth rate needs to be carefully monitored in these patients, who also should be routinely screened for hypogonadism when they reach the appropriate age. NEUROG3 mutations expand on the growing number of genetic causes of acquired hypogonadotropic hypogonadism. Endocrine Society 2016-10 2016-08-17 /pmc/articles/PMC5052352/ /pubmed/27533310 http://dx.doi.org/10.1210/jc.2016-2319 Text en https://creativecommons.org/licenses/by/4.0/ This article has been published under the terms of the Creative Commons Attribution License (CC-BY; https://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. Copyright for this article is reatined by the author(s).
spellingShingle Special Features
Rubio-Cabezas, Oscar
Gómez, José Luis
Gleisner, Andrea
Hattersley, Andrew T.
Codner, Ethel
Hypogonadotropic Hypogonadism and Short Stature in Patients with Diabetes Due to Neurogenin 3 Deficiency
title Hypogonadotropic Hypogonadism and Short Stature in Patients with Diabetes Due to Neurogenin 3 Deficiency
title_full Hypogonadotropic Hypogonadism and Short Stature in Patients with Diabetes Due to Neurogenin 3 Deficiency
title_fullStr Hypogonadotropic Hypogonadism and Short Stature in Patients with Diabetes Due to Neurogenin 3 Deficiency
title_full_unstemmed Hypogonadotropic Hypogonadism and Short Stature in Patients with Diabetes Due to Neurogenin 3 Deficiency
title_short Hypogonadotropic Hypogonadism and Short Stature in Patients with Diabetes Due to Neurogenin 3 Deficiency
title_sort hypogonadotropic hypogonadism and short stature in patients with diabetes due to neurogenin 3 deficiency
topic Special Features
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5052352/
https://www.ncbi.nlm.nih.gov/pubmed/27533310
http://dx.doi.org/10.1210/jc.2016-2319
work_keys_str_mv AT rubiocabezasoscar hypogonadotropichypogonadismandshortstatureinpatientswithdiabetesduetoneurogenin3deficiency
AT gomezjoseluis hypogonadotropichypogonadismandshortstatureinpatientswithdiabetesduetoneurogenin3deficiency
AT gleisnerandrea hypogonadotropichypogonadismandshortstatureinpatientswithdiabetesduetoneurogenin3deficiency
AT hattersleyandrewt hypogonadotropichypogonadismandshortstatureinpatientswithdiabetesduetoneurogenin3deficiency
AT codnerethel hypogonadotropichypogonadismandshortstatureinpatientswithdiabetesduetoneurogenin3deficiency