23 research outputs found
Combined Evaluation of IGF−1 and IGFBP−3 as an Index of Efficacy and Safety in Growth Hormone Treated Patients
Objective: Measurement of serum insulin−like growth factor−1 (IGF−1) and IGF binding protein−3 (IGFBP−3) levels has been recommended as a useful index for monitoring of growth hormone (GH) therapy in GH deficient children. In this study we aimed to evaluate IGF−1/IGFBP−3 molar ratio during GH treatment as an index of safety and efficacy
Evaluation of Thyroid Functions with Respect to Iodine Status and TRH Test in Chronic Autoimmune Thyroiditis
Objective: Chronic autoimmune thyroiditis (CAT) is the most common form of thyroiditis in childhood and a frequent cause of acquired hypothyroidism. The objective of this study was to evaluate the thyroid status of childrenand adolescents with CAT with respect to iodine status and diagnostic values of thyrotropin-releasing hormone (TRH) test
Permanent Central Diabetes Insipidus with Complete Regression of Pituitary Stalk Enlargement After 4 Years of Follow−up
A 14 year−old patient was admitted because of a history of polyuria and polydipsia. A diagnosis of central diabetes insipidus (CDI) accompanied by growth hormone (GH) and gonadotropin deficiency was made. Hypophyseal magnetic resonance imaging (MRI) of the patient demonstrated isolated pituitary stalk enlargement. Although GH deficiency and gonadotropin deficiency were transient, CDI was persistent despite the regression of the pituitary stalk enlargement over the 4 years of follow−up
Evaluation of Permanent Growth Hormone Deficiency (GHD) in Young Adults with Childhood Onset GHD: A multicenter study
Background: Reconfirming the diagnosis of childhood onset growth hormone deficiency (GHD) in young adults is necessary to demonstrate the need for continuation of GH therapy
Long−Term Follow−Up of a Pseudohypoparathyroidism Type 1A Patient with Missense Mutation (Pro115Ser) in Exon 5
Pseudohypoparathyroidism (PHP) refers to end−organ resistance that primarily impairs the renal actions of parathyroid hormone (PTH). The patients with PHP type Ia (PHP−Ia), one of the 4 types of PHP, show resistance to other peptide hormones as well as clinical features of Albright hereditary osteodystrophy (AHO), a constellation of short stature, obesity, brachydactyly, ectopic ossifications, and/or mental retardation. Here we report clinical follow−up for a long−term period in a PHP−Ia case who had a missense mutation leading to the substitution of proline by serine (Prol115Ser) in exon 5 which has been reported previously in only two patients. An 11−year−old boy applied for hand spasm to our hospital. On physical examination, he had short stature, round−shaped face and brachydactly. Laboratory evaluation revealed PTH and TSH resistance. Molecular genetic analysis of the GNAS gene revealed a P115S substitution. The patient was followed up for 13 years. Normocalcaemia was achieved with reduced doses of calcitriol (0.25 μg/day) and calcium supplements (40 mg/kg/day). Daily requirement for levothyroxine supplementation was still high (2.3 μg/kg) to achieve euthyroidism. His pubertal development was Tanner stage V and he has no gonadotropin resistance. To our knowledge, this is the first report concerning long−term follow−up of this rare mutation. We believe that despite the genetic heterogeneity of AHO, phenotype/genotype correlations of this kind of rare mutations may help to understand progress of the disease
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The KBG syndrome: Confirmation of autosomal dominant inheritance and further delineation of the phenotype
A Case of Central Precocious Puberty Due to Concomitant Hypothalamic Hamartoma and Juvenile Pilocytic Astrocytoma
Central precocious puberty (CPP) is caused by premature activation of the hypothalamo-pituitary-gonadal axis. More than 50% of boys with CPP have an identifiable etiology. Hypothalamic hamartoma (HH), hydrocephalus, tumors, infections, congenital defects, ischemia, radiation, or injury of the brain are the most common causes of secondary CPP. In this report, we present the case of a 2 years and 9 months old male patient who had a 30x40 mm contrast-enhancing suprasellar mass and was histopathologically diagnosed with giant HH. However, since HHs are designated as non-enhancing masses, considering the possibility of an incomplete diagnosis of a glial tumor, the patient was followed up. Clinical and radiological follow-up revealed stable findings with no evidence of tumor growth until the third year after surgery when he presented with neurological deficit due to the rapid growth of the suprasellar mass. After the second surgery, histopathological examination of the biopsy specimen revealed the lesion to be a juvenile pilocytic astrocytoma (PA). The concomitance of HH and juvenile PA is very rare. To our knowledge, this is the first report of a patient with concomitant juvenile PA and HH who developed CPP and did not have gelastic epilepsy despite the rapidly growing giant mass