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Evaluation of growth and puberty in a child with a novel TBX19 gene mutation and review of the literature

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dc.contributor.authorAbali, Zehra Yavas
dc.contributor.authorYEŞİL, GÖZDE
dc.contributor.authorKIRKGÖZ, TARIK
dc.contributor.authorKAYGUSUZ, SARE BETÜL
dc.contributor.authorELTAN, MEHMET
dc.contributor.authorTuran, Serap
dc.contributor.authorBEREKET, ABDULLAH
dc.contributor.authorGÜRAN, TÜLAY
dc.contributor.institutionauthorYEŞİL, GÖZDE
dc.date.accessioned2019-11-17T23:40:51Z
dc.date.available2019-11-17T23:40:51Z
dc.date.issued2019-06-01
dc.description.abstractBackground 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 A 4(8/12)-year-old girl was presented with loss of consciousness due to hypoglycemia. The patient was born at term with a birth weight of 3800 g. Her parents were first-degree cousins. She had a history of several hospitalizations for recurrent seizures, abdominal pain, and vomiting. At presentation, her weight and height were + 1.8 and + 2.2 SDS, respectively. Serum glucose was 25 mg/dl (1.4 mmol/L), with normal sodium, potassium, and insulin concentrations. The child was hypocortisolemic (0.1 mu g/dl), and ACTH levels were extremely low ( A (W101*) mutation in the TBX19 gene. Conclusion 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.
dc.identifier.citationAbali Z. Y. , YEŞİL G., KIRKGÖZ T., KAYGUSUZ S. B. , ELTAN M., Turan S., BEREKET A., GÜRAN T., -Evaluation of growth and puberty in a child with a novel TBX19 gene mutation and review of the literature-, HORMONES-INTERNATIONAL JOURNAL OF ENDOCRINOLOGY AND METABOLISM, cilt.18, ss.229-236, 2019
dc.identifier.doi10.1007/s42000-019-00096-7
dc.identifier.pubmed30747411
dc.identifier.scopus85070865072
dc.identifier.urihttps://hdl.handle.net/20.500.12645/10301
dc.identifier.wosWOS:000480626500014
dc.language.isoen
dc.titleEvaluation of growth and puberty in a child with a novel TBX19 gene mutation and review of the literature
dc.typeArticle
dspace.entity.typePublication
local.avesis.id01740929-4332-409d-b010-a2a3026383a6
local.org.facultyTıp Fakültesi
local.publication.isinternational1
relation.isAuthorOfPublicationb653abbc-327a-4b3b-a227-f3344d8d6b70
relation.isAuthorOfPublication.latestForDiscoveryb653abbc-327a-4b3b-a227-f3344d8d6b70
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