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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.authorBEREKET, ABDULLAH
dc.contributor.authorsAbali, Zehra Yavas; Yesil, Gozde; Kirkgoz, Tarik; Kaygusuz, Sare Betul; Eltan, Mehmet; Turan, Serap; Bereket, Abdullah; Guran, Tulay
dc.date.accessioned2022-03-10T15:25:32Z
dc.date.available2022-03-10T15:25:32Z
dc.date.issued2019
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 (< 5.0 pg/ml). A diagnosis of IAD was made and hydrocortisone treatment was started. Hypoglycemic episodes, seizures, and recurrent gastrointestinal complaints disappeared after hydrocortisone replacement. Magnetic resonance imaging of the pituitary was normal. Whole exome sequencing revealed a novel homozygous c.302G > 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.doi10.1007/s42000-019-00096-7
dc.identifier.eissn2520-8721
dc.identifier.issn1109-3099
dc.identifier.pubmed30747411
dc.identifier.urihttps://hdl.handle.net/11424/220283
dc.identifier.wosWOS:000480626500014
dc.language.isoeng
dc.publisherSPRINGER INTERNATIONAL PUBLISHING AG
dc.relation.ispartofHORMONES-INTERNATIONAL JOURNAL OF ENDOCRINOLOGY AND METABOLISM
dc.rightsinfo:eu-repo/semantics/closedAccess
dc.subjectTPIT
dc.subjectTBX19
dc.subjectIsolated ACTH deficiency
dc.subjectGrowth
dc.subjectPuberty
dc.subjectCentral adrenal insufficiency
dc.subjectPOMC-DEFICIENCY
dc.subjectADRENOCORTICOTROPIN DEFICIENCY
dc.subjectTPIT MUTATIONS
dc.subjectEARLY-ONSET
dc.subjectDIAGNOSIS
dc.subjectESTRIOL
dc.subjectTYPE-1
dc.subjectRESISTANCE
dc.subjectPATIENT
dc.titleEvaluation of growth and puberty in a child with a novel TBX19 gene mutation and review of the literature
dc.typereview
dspace.entity.typePublication
local.avesis.id01740929-4332-409d-b010-a2a3026383a6
local.import.packageSS5
local.indexed.atWOS
local.indexed.atSCOPUS
local.indexed.atPUBMED
local.journal.numberofpages8
local.journal.quartileQ4
oaire.citation.endPage236
oaire.citation.issue2
oaire.citation.startPage229
oaire.citation.titleHORMONES-INTERNATIONAL JOURNAL OF ENDOCRINOLOGY AND METABOLISM
oaire.citation.volume18
relation.isAuthorOfPublication669e9474-4e39-453f-a4bc-4ede9cb5abac
relation.isAuthorOfPublication.latestForDiscovery669e9474-4e39-453f-a4bc-4ede9cb5abac

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