Merih Berberoglu

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Tpit is a highly cell-restricted transcription factor that is required for expression of the pro-opiomelanocortin (POMC) gene and for terminal differentiation of the pituitary corticotroph lineage. Its exclusive expression in pituitary POMC-expressing cells has suggested that its mutation may cause isolated deficiency of pituitary adrenocorticotropin(More)
Next-generation sequencing (NGS) enables analysis of the human genome on a scale previously unachievable by Sanger sequencing. Exome sequencing of the coding regions and conserved splice sites has been very successful in the identification of disease-causing mutations, and targeting of these regions has extended clinical diagnostic testing from analysis of(More)
CONTEXT In 46,XY disorders of sex development, 5α-reductase deficiency is rare and is not usually the first-intention diagnosis in newborn ambiguous genitalia, contrary to partial androgen insensitivity syndrome. Yet the cause of ambiguous genitalia may guide sex assignment, and rapid, precise diagnosis of 5α-reductase deficiency is essential. OBJECTIVE(More)
Tpit is a T box transcription factor important for terminal differentiation of pituitary proopiomelanocortin-expressing cells. We demonstrated that human and mouse mutations of the TPIT gene cause a neonatal-onset form of congenital isolated ACTH deficiency (IAD). In the absence of glucocorticoid replacement, IAD can lead to neonatal death by acute adrenal(More)
The effect of oral administration of desmopressin (DDAVP) solution was investigated in a very low birth weight premature infant with central diabetes insipidus that was associated with grade four germinal matrix hemorrhage. As an alternative to the nasal route, long-term successful management resulting in favorable growth and development during infancy was(More)
We present ultrasonographic and magnetic resonance imaging findings of intratesticular adrenal rests in a 16-year-old patient with congenital adrenal hyperplasia. Scrotal ultrasonography showed bilateral well-delineated homogenous hypoechoic lesions located around the mediastinum testis, which were highly vascularized on power Doppler ultrasonography.(More)
CONTEXT The central clinical feature of GH insensitivity (GHI) is severe growth failure associated with elevated serum concentrations of GH and abnormally low serum levels of IGF-I. GHI can be the result of an abnormality in the GH receptor or aberrancies downstream of the GH receptor. OBJECTIVE We investigated the GH-IGF-I axis in a young female GHI(More)
INTRODUCTION Disorders of sexual development (DSD) occur when the appearance of the internal and/or external genitalia is at variance with normal development for either sex. We reviewed the characteristics of patients with DSD. PATIENTS Two hundred and eight children aged from newborn to 19 years with DSD from 1990 to 2008. RESULTS 46,XY DSD (52.4%) was(More)
OBJECTIVE To investigate the effects of treatment with gonadotropin-releasing hormone analog (GnRHa) on final height in girls who experienced moderately early puberty with symptoms beginning at 7-8.5 years of age. METHODS Female cases diagnosed with moderately early puberty which had started between ages 7 to 8.5 years were included in the study. In the(More)
Familial Mediterranean fever (FMF) is an autosomal recessive disease, characterized by recurrent, self-limited attacks of fever with serositis involving the peritoneum, pleura, and joints. There is very scarce information on physical growth of affected children. The aim of this study was to determine whether there is significant improvement in growth(More)