Searchable abstracts of presentations at key conferences in endocrinology

ea0063ep80 | Interdisciplinary endocrinology | ECE2019

Hypercortisolemia in Rothmund Thomson syndrome with RECQL4 mutation

Fetoui Nadia Ghariani , Ghariani Najet , Hasni Yosra , Rekaya Mariam Ben , Gammoudi Rima , Kahla Marwen Ben , Hajji Ikram , Aounallah Amina , Mokni Sana , Chaieb Molka , Maaroufi Amel , Abdelhak Sonia , Belajouza Colandane , Boussofara Lobna , Denguezli Mohamed

Introduction: Rothmund-Thomson syndrome (RTS) is a rare autosomal recessive genodermatosis, with specific clinical features. Herein, we report a case of RTS with RECQL4 mutation, unusually associated with hypercortisolemia.Case report: An 18-year-old girl, born to consanguinous parents, with a history of xeroderma pigmentosum (XP) in two cousins, has been followed-up for RTS, since the age of 3 years. The diagnosis of RTS was made based on photosensitivi...

ea0073aep828 | Late Breaking | ECE2021

Duodenal neuroendocrine tumor (siNET) and Rothmund-Thomson syndrome: a new association of a rare genetic disorder

Paja Fano Miguel , Adela L. Martínez-Martínez , Andoni Monzón , Josune Rodríguez-Soto , Merlo Ignacio , María J García-Barcina , Merino Sonia , M. Carmen González-Serrano

Rothmund-Thomson syndrome (RTS) usually presents with physical stigmata (poikiloderma, ectodermal dysplasia, juvenile cataracts…) and it´s associated with malignancies in patients with homozygous or compound heterozygous mutations in the RECQL4 helicase gene (RTS-II). Neoplasms include osteosarcoma in childhood and skin cancer later in life, with occasional malignancies affecting other tissues (leukemia, lymphoma and gastrointestinal adenocarcinomas). To ou...

ea0042oc7 | (1) | Androgens2016

Identification of AR genomic targets in mesenchymal cell subsets during prostate development

Nash Claire , Boufaied Nadia , Thomson Axel A.

Sexually dimorphic organogenesis of the prostate is a key function of androgens during mammalian development. Mesenchymal AR signalling is essential for prostate development, while epithelial AR is not required. Within the mesenchyme there are distinct mesenchymal subsets that show differential effects of androgens; androgens regulate the thickness of the urethral smooth muscle layer, while in the inductive mesenchymal pad, androgens stimulate branching and growth of prostate ...

ea0014p491 | (1) | ECE2007

The possible role of genetics in severity of thyrotoxicosis

Iqbal Nosheen , Thomson George

We report the cases of two identical twins with Graves’ disease which proved very difficult to control and followed very similar stormy course. Twin A was a 20 years old female of 12 weeks gestation when she was referred to endocrine clinic with history of weight loss, palpitations and tremor. Her thyroid function tests revealed TSH <0.08 mU/L (0.03–4.30), FT4 82.5 pmol/L (12–22 pmol/L) and FT3 44.4 pmol/L (2.8–7.1) with positive thyroid receptor antibo...

ea0010p15 | Clinical case reports/Governance | SFE2005

Is Graves’ disease severity influenced by genes: a tale of two identical twins

Iqbal N , Thomson G

We report the cases of two identical twins with Graves’ disease which proved very difficult to control and followed very similar stormy course. Twin A was a 20 years old female of 12 weeks gestation when she was referred to endocrine clinic with history of weight loss, palpitations and tremor. Her thyroid function tests revealed TSH <0.08 mU/L (0.03–4.30), FT4 82.5 pmol/L (12–22 pmol/L) and FT3 44.4 pmol/L (2.8–7.1) with positive thyroid receptor ant...

ea0010p16 | Clinical case reports/Governance | SFE2005

Hyperemesis gravidarum causing malnutrition related glucose intolerance: a clinical vignette

Thomson G , Iqbal N

We report the case of a 27 year old female who was referred to our diabetes team from the antenatal clinic, when she was found to have an abnormal glucose tolerance at 16 weeks of gestation (fasting and 2 hours blood glucose values of 5.1 mmol/L and 12.2 mmol/L respectively). At the same time she was suffering with severe hyperemesis gravidarum for many weeks and had suffered significant weight loss (thyroid function tests were unremarkable). She had no specific symptoms to su...

ea0010p17 | Clinical case reports/Governance | SFE2005

The challenge of managing unresponsive thyrotoxicosis in pregnancy

Iqbal N , Thomson G

We report the case of a 22-year old woman with aggressive Graves disease. She was initially found to be clinically and biochemically thyrotoxic in June-2001 when she presented with severe thyroid eye disease. Treatment was commenced with carbimazole but she failed to adequately comply with therapy and follow-up appointments. She fell pregnant whilst thyrotoxic and was converted to propylthiouracil (dose gradually increased due to poor response). She then left the area and had ...

ea0014p492 | (1) | ECE2007

The challenge of managing thionamide induced agranulocytosis in a patient with Graves’ disease

Iqbal Nosheen , Dissanayake A , Thomson George

We report a 44 year old lady with a history of weight loss, anxiety and ‘prominent eyes’. She was clinically and biochemically thyrotoxic (FT4: 158.1 pmol/L [12–22], FT3:56.5 pmol/L [2.8–7.], TSH:<0.08 mU/L [0.30–4.30]). She was commenced on carbimazole and propranolol. Failure to attend regular clinic appointments or comply with drug therapy over the next few years resulted in huge swings of her thyroid status from severe thyrotoxicosis to profoun...

ea0011p111 | Clinical case reports | ECE2006

Challenges of managing metabolic disturbances

Iqbal N , Gruber A , Thomson G

We report two cases of seizures resulting from severe electrolyte imbalance.Case 1: A 48-year old lady with CREST syndrome and oesophageal dysmotility. She was admitted with diarrhoea and vomiting. Routine investigations including FBC, U&E, LFT, and CRP were normal. She later complained of pins and needles in her hands and around her mouth. Twenty-four hours later, she developed blurred vision, neck pain and generalised ache, was found drowsy, with p...

ea0021p288 | Pituitary | SFEBES2009

Anti-allergic cromolyn drugs facilitate annexin 1 secretion from pituitary folliculo-stellate cells

Thomson David , Morris John , Christian Helen

Annexin 1 (ANXA1) was first identified as a glucocorticoid (GC)-inducible protein in macrophages and is a mediator of the powerful anti-inflammatory actions of these steroid hormones. In the pituitary ANXA1 plays a critical role in mediating the early-onset negative feedback effects of GCs on the release of ACTH. ANXA1 is expressed in abundance in the anterior pituitary gland where it is localized specifically to the S100-positive folliculo-stellate (FS) cells. GCs act on FS c...