Raja Brauner

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BACKGROUND A prospective study on childhood craniopharyngiomas (CPs) was conducted from 1994 to 1998 to appreciate the pre- and postoperative clinical, endocrine, mental, and intellectual status of the patients and to determine the incidence and severity of the postoperative hypothalamic syndrome. METHODS The series included 14 consecutive CPs. Twelve(More)
BACKGROUND For a long time, craniopharyngiomas have been considered surgically attractive tumours. The fact that they are rare, histologically benign, and located in a challenging (but considered accessible) area made them worthy surgical prizes. METHODS As we have saved vision and "cured" many of these tumours, the insidious and devastating effects on(More)
OBJECT This study was performed to optimize the management of craniopharyngiomas, particularly by identifying factors predicting weight changes to prevent obesity. METHODS A series of 35 patients who had undergone surgery at a mean age of 7.4 +/- 3.7 years (standard deviation [SD]) and had been followed up until 14.9 +/- 5 years of age by the same(More)
BACKGROUND It is sometimes difficult to distinguish between premature thelarche and precocious puberty in girls who develop breasts before the age of 8 years. We evaluated the frequencies of the signs associated with breast development and the factors influencing the presentation of girls with idiopathic central precocious puberty (CPP). METHODS 353 girls(More)
BACKGROUND Mutations of the NR5A1 gene encoding steroidogenic factor-1 have been reported in association with a wide spectrum of 46,XY DSD (Disorder of Sex Development) phenotypes including severe forms of hypospadias. METHODOLOGY/PRINCIPAL FINDINGS We evaluated the frequency of NR5A1 gene mutations in a large series of patients presenting with 46,XY DSD(More)
BACKGROUND Despite the number of reported data concerning idiopathic central precocious puberty (CPP) in girls, major questions remain including its diagnosis, factors, and indications of gonadotropin releasing hormone (GnRH) analog treatment. METHODS A retrospective, single-center study was carried out on 493 girls with CPP. RESULTS Eleven girls (2.2%)(More)
OBJECTIVES To study the diagnostic delay for pituitary stalk interruption syndrome (PSIS) with growth hormone deficiency (GHD) and the sensitivity of the auxological criteria of the Growth Hormone Research Society (GHRS) consensus guidelines. METHODS A single-center retrospective case-cohort study covering records from January 2000 through December 2007(More)
BACKGROUND Anorchia is defined as the absence of testes in a 46,XY individual with a male phenotype. The cause is unknown. METHODS We evaluated the clinical and biological presentation, and family histories of 26 boys with anorchia, and sequenced their SRY, NR5A1, INSL3, MAMLD1 genes and the T222P variant for LGR8. RESULTS No patient had any associated(More)
OBJECTIVE To identify the clinical findings of Hashimoto's encephalopathy (HE) in children and assess their neurological outcome. METHODS In this retrospective observational study of 42 children with encephalitis dominated by acute neuro-behavioral features, eight met the diagnostic criteria of HE. Their biological, EEG and brain MRI characteristics were(More)
BACKGROUND The cause of isolated gonadotropin-independent precocious puberty (PP) with an ovarian cyst is unknown in the majority of cases. Here, we describe 11 new cases of peripheral PP and, based on phenotypes observed in mouse models, we tested the hypothesis that mutations in the GNAS1, NR5A1, LHCGR, FSHR, NR5A1, StAR, DMRT4 and NOBOX may be associated(More)