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ea0032p852 | Pituitary – Clinical (<emphasis role="italic">Generously supported by IPSEN</emphasis>) | ECE2013

A novel mutation in gonadotropin releasing hormone receptor causing delay in puberty in a sporadic case of isolated hypogonadotropic hypogonadism

Riaz Misbah , Mansoor Qaiser , Akram Maleeha , Shahbaz Madiha , Aslam Shaista , Mirza Shakeel , ullah Irfan , Akhtar Parveen , Qayyum Mazhar , Naseem Afzaal Ahmed , Tahir Fahim , Ismail Muhammad , Rizvi S S R

The signaling of G protein-coupled receptor 54 (GPR54) is a key regulator of the secretion of gonadotropin-releasing hormone (GnRH) from the hypothalamic GnRH neurons, whereas GnRH is a crucial neurohormone regulating the secretion of FSH and LH at the time of puberty. The deficiency in the release or action of GnRH leads to hypogonadotropic hypogonadism (HH) characterized by low FSH, LH and testosterone (T) and results in absent or impaired sexual development at puberty. In b...

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ea0038oc5.5 | Thyroid and parathyroid | SFEBES2015

Investigating the genetic architecture of gland-in-situ congenital hypothyroidism by comprehensive screening of eight known causative genes

Nicholas Adeline K , Serra Eva Goncalves , Cangul Hakan , Al-Yaarubi Saif , Ullah Irfan , Habeb Abdelhadi , Deeb Asma , Peters Catherine , Dattani Mehul , Shenoy Savitha , Murray P G , Puthi Vijith , Park Soo-Mi , Nathwani Nisha , Babiker Amir , Martin Howard , Anderson Carl A , Maher Eamonn , Chatterjee V Krishna , Schoenmakers Nadia

Background: Lower cut-offs in TSH screening have doubled the incidence of congenital hypothyroidism (CH), particularly cases with an eutopically-located Gland-in-situ (GIS). Although mutations in known dyshormonogenesis genes, or the thyrotropin-stimulating hormone receptor (TSHR) may underlie such cases, these genes have not previously been screened comprehensively in a GIS CH cohort.Study design: We evaluated the relative contribution and mole...

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Endocrine Abstracts

A novel mutation in gonadotropin releasing hormone receptor causing delay in puberty in a sporadic case of isolated hypogonadotropic hypogonadism

Investigating the genetic architecture of gland-in-situ congenital hypothyroidism by comprehensive screening of eight known causative genes

BiosciAbstracts