Abstract Search

ea0038p360 | Reproduction | SFEBES2015

Whole exome sequencing in congenital hypogonadotropic hypogonadism

Izatt Louise , Carroll Paul , Lillis Suzanne , Brodd Lina , Stone Kristina , Ryan Kevin , Ahn JooWook , Simpson Michael , Yau Michael

Congenital hypogonadotropic hypogonadism (CHH (MIM161110)) due to GnRH deficiency is a rare genetic disorder (affects ~1/30 000) characterised by abnormal pubertal development and infertility. Over 60% cases have anosmia (Kallmann syndrome) and some exhibit additional phenotypes. CHH is a genetically heterogeneous developmental disease. Most cases present sporadically, although familial forms (AD, AR, and X-linked) with incomplete penetrance and variable expressivity occur. Re...

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ea0058oc5.8 | Oral Communications 5 | BSPED2018

Patients with short stature and GH/IGF-1 insensitivity harbour copy number variants causing a Silver-Russell-like phenotype

Cottrell Emily , Chatterjee Sumana , Moore Gudrun , Ishida Miho , Greening James , Wright Neil , Bossowski Artur , Deeb Asma , Al Basiri Iman , Rose Stephen , Mason Avril , Ahn JooWook , Bint Susan , Savage Martin O , Metherell Louise A , Storr Helen L

Introduction: Our Centre receives international referrals for genetic analysis of children with short stature (SS) and features of GH/IGF-1 insensitivity. Copy number variation (CNV) hasnt previously been investigated in GH/IGF-1 insensitivity. We hypothesised CNVs contribute to the phenotype in our undiagnosed cohort.Experimental design/methodology: CGH was performed with oligonucleotide array using ~60,000 probes in 60 patients (38 M, mean age 7....

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Endocrine Abstracts

Whole exome sequencing in congenital hypogonadotropic hypogonadism

Patients with short stature and GH/IGF-1 insensitivity harbour copy number variants causing a Silver-Russell-like phenotype

BiosciAbstracts