Searchable abstracts of presentations at key conferences in endocrinology

ea0021p300 | Pituitary | SFEBES2009

Genetic screening for variability in regulatory regions of SOX2 and implications for hypothalamo-pituitary development

Alatzoglou Kyriaki S , Kelberman Daniel , Buchanan Charles , Dattani Mehul T

Background: SOX2 is a member of the SOX (SRY-related HMG box) family of transcription factors, and shares homology with SOX1 and SOX3 which are members of the SOXB1 subfamily. Heterozygous, de novo, loss-of-function mutations in SOX2 were initially reported in patients with bilateral anophthalmia/microphthalmia, developmental delay and male genital tract abnormalities, with variable manifestations including defects of the corpus callosum, oes...

ea0027p84 | (1) | BSPED2011

Mevalonic aciduria in a pedigree with presumed GH-insensitivity

Gevers Evelien , Kelberman Daniel , Aylwin Simon , Buchanon Charles , Waterham Hans , Dattani Mehul

Mutations in GHR, STAT5B and IGF1 lead to GH-insensitivity but often the cause of reduced GH-sensitivity remains unknown. We describe the identification of a mutation in the MVK gene encoding mevalonate kinase (MK) in a pedigree investigated for STAT5B-deficiency.A 15-year-old male born to consanguineous parents was referred for short stature (height 125.8 cm; −5.6 SDS) and arthritis. He presented, aged 2 years, with fev...

ea0025p259 | Pituitary | SFEBES2011

Wide range of eye abnormalities in patients with hypopituitarism; implications for diagnosis and treatment

Alatzoglou Kyriaki S , Kelberman Daniel , Spadoni Emanuella , Gaston-Massuet Carles , Woods Kathrine , Maghnie Mohamad , Bitner-Glindzicz Maria , Dattani Mehul T

Background and aim: The development of the pituitary gland is closely linked to this of the eyes and forebrain, as they all originate from the same embryonic origin, the anterior neural ridge. The constellation of symptoms leading to septo-optic dysplasia (SOD) is well established; other ophthalmic signs may be under-reported. The aim of the study was to define if patients with hypopituitarism present with eye abnormalities, which are distinct from SOD, and if this association...

ea0032p830 | Pituitary–Basic (<emphasis role="italic">Generously supported by IPSEN</emphasis>) | ECE2013

Mutations of SOX2 gene: a novel heterozygous mutation and impact on congenital hypopituitarism

Auriemma Renata S , Macchiaroli Annamaria , Kelberman Daniel , Faienza Maria F , Corona Rosalia , Mariano Iolanda , Giangiobbe Sara , Galdiero Mariano , Pivonello Rosario , Colao Annamaria , Gasperi Maurizio

Introduction: Anophthalmia/microphthalmia is a rare developmental craniofacial defect often associated to congenital hypopituitarism with GH deficiency and hypogonadism. SOX2 gene plays a key role in embryonic development regulation and heterozygous mutations of this gene, reported only in 14 patients to date, have been associated to anophthalmia/microphthalmia and congenital hypopituitarism in uo to 10% of cases. Therefore, the study of the SOX2 gene can be clinically useful ...

ea0027oc2.8 | Oral Communications 2 (Quick Fire) | BSPED2011

Novel SOX2 mutation: from clinical phenotype to identification of new molecular mechanisms of SOX2 action and interactions

Alatzoglou Kyriaki S , Andoniadou Cynthia L , Kelberman Daniel , Kim Hyoong-Goo , Pedersen-White Jennifer , Layman Lawrence , Martinez-Barbera Juan Pedro , Dattani Mehul T

Background: SOX2 is an early developmental transcription factor implicated in pituitary development. It consists of a N-terminal domain, a high mobility group (HMG)-DNA binding domain and a carboxyl-terminal domain. Heterozygous SOX2 mutations have been described in patients with a severe ocular phenotype and hypogonadotrophic hypogonadism (HH) with/without associated abnormalities. In vitro SOX2 interacts with β-catenin, a member of the Wnt signalling pathway, and...

ea0013oc16 | Young Endocrinologist prize session | SFEBES2007

Heterozygous missense mutations in steroidogenic factor 1 (SF1/Ad4BP, NR5A1) cause 46,XY disorders of sex development with normal adrenal function

Lin Lin , Philibert Pascal , Ferraz-de-Souza Bruno , Kelberman Daniel , Homfray Tessa , Albanese Assunta , Molini Veruska , Sebire Neil , Einaudi Silvia , Jameson Larry , Sultan Charles , Dattani Mehul , Achermann John

The nuclear receptor steroidogenic factor 1 (SF1/AdBP4/FTZF1, NR5A1) is a key regulator of adrenal and gonadal development, steroidogenesis and reproduction, and targeted deletion of Nr5a1 (Sf1) in the mouse results in adrenal and gonadal agenesis, XY sex-reversal and persistent Müllerian structures in males. Consistent with this phenotype, DNA-binding mutations in SF1 have been reported in two 46,XY female patients with primary adrenal failure and uterine s...

ea0030oc2.8 | Oral Communications 2 | BSPED2012

Genetic screening in a large cohort of patients with congenital hypopituitarism; current knowledge and future directions

Alatzoglou Kyriaki S , Turton James P G , Kelberman Daniel , McCabe Marc J , Gregory Louise C , Webb Emma A , McNay David E G , Woods Kathryn S , Mehta Ameeta , Dattani Mehul T

Background and aims: Congenital hypopituitarism (CH) encompasses a spectrum of phenotypes. Known genetic factors account for variable percentage of cases depending on the cohort screened. We analysed the results of genetic screening in a large cohort of patients with CH with the following aims: i) to clarify the genetic aetiology of CH ii) identify any phenotype genotype correlations and iii) propose a screening strategy.Patients and methods: Over 15 yea...