Searchable abstracts of presentations at key conferences in endocrinology

ea0010s30 | Big issues in pituitary research | SFE2005

Steroidogenic factor-1 (SF-1) and DAX-1

Achermann J

The past decade has seen significant advances in our understanding of the molecular mechanisms of pituitary development and function. However, relatively few gonadotrope specific factors have been identified to date. Through characterization of patients with endocrine disorders as well as transgenic mice, it has emerged that the nuclear receptor transcription factors SF-1 and DAX-1 play an important role in the regulation of gonadotrope activity. SF-1 (NR5A1) activates multipl...

ea0004s14 | Transcriptional control of endocrine development and function | SFE2002


Achermann J

Transcription factors play an important role in the development and function of the hypothalamic-pituitary adrenal (HPA) axis at multiple levels. Mutations in several of these factors have now been described in patients with primary and secondary forms of congenital adrenal hypoplasia. Secondary adrenal hypoplasia results from defective ACTH release and action. This condition can occur as part of a combined pituitary hormone deficiency due to mutations in the homeobox transcri...

ea0024oc1.4 | Oral Communications 1 | BSPED2010

The Growth Hormone Receptor Exon 3 Deleted Polymorphism is Associated with Birth and Placental Weight

Padidela R , Bryan S , Abu-Amero S , Hudson-Davies R , Achermann J , Moore G , Hindmarsh P

In humans Growth Hormone Receptor (GHR) transcripts exist in two isoforms, the full-length (GHRfl) or exon 3 deletion isoform (GHRd3). Individuals with the GHRd3 isoform are associated with an increased response to recombinant human GH. The d3/fl-GHR polymorphism does not influence adult height. However, an association with the d3/fl-GHR polymorphism has been found with antenatal growth especially in small for gestational age (SGA) infants. H...

ea0009p74 | Growth and development | BES2005

Two novel missense mutations in GPR54 in a subject with hypogonadotropic hypogonadism

Semple R , Achermann J , Ellery J , Farooqi I , Karet F , Stanhope R , O'Rahilly S , Aparicio S

It has recently been shown that loss-of-function mutations of the G protein coupled receptor GPR54 lead to isolated hypogonadotropic hypogonadism (IHH) in mice and humans. Such mutations are thought to be rare, even within the clinical IHH population, and only a handful of alleles have been described, making further screening of IHH populations imperative. We examined the genes encoding GPR54 and its putative endogenous ligand, kisspeptin-1, for mutations in a cohort of 30 pat...

ea0030oc1.3 | Oral Communications 1 | BSPED2012

Potential novel insights into the control of the feto-placental unit by kisspeptin

Katugampola Harshini , Dunkel Leo , King Peter J , Achermann John A , Duncan Andrew J , Sankilampi Ulla , Storr Helen L

Introduction: Kisspeptin is the endogenous ligand for the G-protein coupled receptor-54 (GPR54 or KiSS1R). During human pregnancy, maternal levels of placental kisspeptin dramatically increase 7000-fold. The physiological significance of this is unknown. A potential target could be the fetal adrenal cortex (FAC), which undergoes rapid growth from 10 weeks gestation, predominantly of the inner fetal zone (FZ). The FZ expresses the steroidogenic enzymes needed for conversion of ...

ea0007p279 | Clinical case reports | BES2004

A novel 17 alpha hydroxylase mutation (CYP 17) associated with a pelvic germ cell tumour

Brooke A , Ahmad T , Taylor N , Shepherd J , Lin L , Achermann J , Rumsbey G , Gore M , Monson J

A 17 year old phenotypically female Middle Eastern patient presented with a short history of abdominal pain. Laparotomy and biopsy confirmed extensive mixed germ cell tumour with yolk sac elements. After referral to London, remission was achieved with 6 cycles of Bleomycin, Etoposide and Cisplatinum (alpha feta protein decreasing from 12 714 to 5 milli units per litre). Examination revealed short stature, absent pubertal development and primary amenorrhoea. She had palmar, buc...