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KIRKGÖZ, TARIK

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KIRKGÖZ

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2018 - 20192
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    Primary adrenal insufficiency in children: Diagnosis and management
    (ELSEVIER SCI LTD, 2018) KIRKGÖZ, TARIK; Kirkgoz, Tarik; Fellow, Clinical; Guran, Tulay
    Primary adrenal insufficiency (PAI) is a life-threatening disorder of adrenal cortex which is characterized by deficient biosynthesis of glucocorticoids, with or without deficiency in mineralocorticoids and adrenal androgens. Typical manifestations of primary adrenal insufficiency include hyperpigmentation, hypotension, hypoglycaemia, hyponatremia with or without hyperkalemia that are generally preceded by nonspecific symptoms at the onset. Recessively inherited monogenic disorders constitute the largest group of primary adrenal insufficiency in children. The diagnostic process of primary adrenal insufficiency includes demonstration of low cortisol concentrations along with high plasma ACTH and identifying the cause of the disorder. Specific molecular diagnosis is achieved in more than 80% of children with PAI by detailed clinical and biochemical characterization integrated with advanced molecular tools. Hormone replacement therapy determined on the type and the severity of deficient adrenocortical hormones is the mainstay of treatment. Optimized methods of steroid hormone delivery, improved monitoring of hormone replacement along with intensive education of patients and families on the rules during intercurrent illness and stress will significantly reduce the morbidity and mortality associated with primary adrenal insufficiency. (C) 2018 Elsevier Ltd. All rights reserved.
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    Evaluation of growth and puberty in a child with a novel TBX19 gene mutation and review of the literature
    (SPRINGER INTERNATIONAL PUBLISHING AG, 2019) BEREKET, ABDULLAH; Abali, Zehra Yavas; Yesil, Gozde; Kirkgoz, Tarik; Kaygusuz, Sare Betul; Eltan, Mehmet; Turan, Serap; Bereket, Abdullah; Guran, Tulay
    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 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.