Evaluation of growth and puberty in a child with a novel TBX19 gene mutation and review of the literature.
Adrenocorticotropic Hormone
/ deficiency
Child Development
Child, Preschool
Endocrine System Diseases
/ complications
Female
Genetic Diseases, Inborn
/ complications
Genetic Predisposition to Disease
Homeodomain Proteins
/ genetics
Humans
Hypoglycemia
/ complications
Pedigree
Puberty
/ genetics
Sexual Maturation
/ genetics
T-Box Domain Proteins
/ genetics
Central adrenal insufficiency
Growth
Isolated ACTH deficiency
Puberty
TBX19
TPIT
Journal
Hormones (Athens, Greece)
ISSN: 2520-8721
Titre abrégé: Hormones (Athens)
Pays: Switzerland
ID NLM: 101142469
Informations de publication
Date de publication:
Jun 2019
Jun 2019
Historique:
received:
10
11
2018
accepted:
31
01
2019
pubmed:
13
2
2019
medline:
22
1
2020
entrez:
13
2
2019
Statut:
ppublish
Résumé
Biallelic mutations in the TBX19 gene cause severe early-onset adrenal failure due to isolated ACTH deficiency (IAD). This rare disease is characterized by low plasma ACTH and cortisol levels, with normal secretion of other pituitary hormones. Herein, we report a patient with IAD due to a novel TBX19 gene mutation, who is also of tall stature. A 4 We report a new mutation in the TBX19 gene in a patient with isolated ACTH deficiency. While overgrowth is a known feature of some types of adrenal insufficiencies, including MC2R gene defects and POMC deficiency, it may be a novel feature for TPIT deficiency, as in our patient.
Sections du résumé
BACKGROUND
BACKGROUND
Biallelic mutations in the TBX19 gene cause severe early-onset adrenal failure due to isolated ACTH deficiency (IAD). This rare disease is characterized by low plasma ACTH and cortisol levels, with normal secretion of other pituitary hormones. Herein, we report a patient with IAD due to a novel TBX19 gene mutation, who is also of tall stature.
CASE REPORT
METHODS
A 4
CONCLUSION
CONCLUSIONS
We report a new mutation in the TBX19 gene in a patient with isolated ACTH deficiency. While overgrowth is a known feature of some types of adrenal insufficiencies, including MC2R gene defects and POMC deficiency, it may be a novel feature for TPIT deficiency, as in our patient.
Identifiants
pubmed: 30747411
doi: 10.1007/s42000-019-00096-7
pii: 10.1007/s42000-019-00096-7
doi:
Substances chimiques
Homeodomain Proteins
0
T-Box Domain Proteins
0
TBX19 protein, human
0
Adrenocorticotropic Hormone
9002-60-2
Types de publication
Case Reports
Journal Article
Review
Langues
eng
Sous-ensembles de citation
IM