Searchable abstracts of presentations at key conferences in endocrinology

ea0023p22 | (1) | BSPED2009

Nepalese StAR

Moon Rebecca , Achermann John , Lin Lin , Wickramasuriya Nalin , Walker Joanna

Introduction and Case report: Congenital adrenal hyperplasia (CAH) is a heterogenous group of conditions resulting from inborn errors of steroidogenesis, of which over 95% are due to 21-hydroxylase deficiency.We present a 15-year-old Nepalese female, who was referred to the endocrine clinic for management of CAH. This diagnosis had been at 11 months of age, whilst resident in Hong Kong, when she presented acutely with vomiting and seizures. She had since...

ea0027p15 | (1) | BSPED2011

LIN28 in human ovary development and as a candidate gene for primary ovarian insufficiency

El-Khairi Ranna , Parnaik Rahul , Lin Lin , Dattani Mehul , Conway Gerard , Achermann John

Background: The Lin28 family of proteins are emerging as important regulators of microRNAs in endocrine systems. Lin28a influences primordial germ cell development in mice, and overexpression of Lin28a in transgenic mice has recently been shown to influence body size, timing of puberty and litter size. The related protein LIN28B is associated with age at menarche and stature in several independent genome-wide association studies in humans.A...

ea0063ep19 | Adrenal and Neuroendocrine Tumours | ECE2019

ACTH-Producing neuroendocrine cancer of the thymus with pancreatic metastasis, presenting with flush

Chang Ling-Kai , Wu Jer-Wei , Hsu Chia-Lin , Lin Chia-Chi , Cheng Mei-Fang , Chen Rou-He , Wang Hsiu-Po , Shih Shyang-Rong

Context: ACTH-producing neuroendocrine cancer (NEC) of the thymus is rare. Lymph nodes and bone are most common metastatic sites. ACTH-secreting thymic NEC with pancreatic metastasis was only reported in one case. Most cases presented with florid Cushing syndrome (CS). Our case had thymic NEC with pancreatic metastasis, presenting with intermittent flush instead of typical CS. We demonstrate the comprehensive information of somatostatin receptors (SSTR), three different kinds ...

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...