Searchable abstracts of presentations at key conferences in endocrinology

ea0063p1023 | Interdisciplinary Endocrinology 2 | ECE2019

The Miller-McKusick-Malvaux syndrome: a rare cause of short stature

Ben Jemaa Maroua , Kandara Hajer , Mimita Wafa , Jemel Manel , Ouertani Imen , Khachnaoui Khaoula , Zanati Amina , Kammoun Ines

The Miller-McKusick-Malvaux (3M) syndrome is a primordial growth disorder characterized by low birth weight, reduced birth length, severe postnatal growth restriction, a spectrum of skeletal anomalies, facial dysmorphism and normal intelligence. Mutations in the CUL7 gene (6p21.1) are most often responsible for 3M syndrome (67% of cases). Other causal mutations include those in the OBSL1 gene (2q35), in 28% of cases, or the CCDC8 gene (19q13.33), in ...

ea0023p14 | (1) | BSPED2009

Growth restriction with insufficient growth hormone production in a child with variant Miller-Dieker syndrome

Marsh Rosemary , Raine Joseph

Introduction: We describe a girl presenting with abnormal facial features, growth restriction with insufficient growth hormone production and learning difficulties. She has an unbalanced translocation between 17p13.3 and 10q26.13 causing a microdeletion at 17p13.3 and trisomy of 10q26.Case report: At presentation at 7½ years of age, her height was 4 cm below the 0.4th centile with a growth velocity of 1.6 cm/year; weight was on 0.4th centile. Invest...

ea0038s9.1 | The endocrinology of the thin (Supported by <emphasis role="italic">Endocrine Connections</emphasis>) | SFEBES2015

Endocrine dysfunction in anorexia nervosa

Miller Karen

Anorexia nervosa is a common psychiatric disease, with a prevalence of 1–2% of college-aged women, characterized by chronic starvation. Nutritional deprivation is complicated by serious and multi-axis endocrine dysregulation. This includes abnormalities in GnRH secretion resulting in hypothalamic amenorrhea, with resultant estrogen and androgen deficiency, which is usually but not always reversible with weight and psychiatric recovery. GH resistance at the level of the li...

ea0010s28 | Bone breaking diseases | SFE2005

Switching on dead bones

Miller M

The treatment of growth hormone deficiency (GHD) with growth hormone (GH) leads to increased bone turnover, new bone formations and increased bone mineral density (BMD). This response is paralleled by an increased demand for bone substrate. We present a case in which the increased turnover induced by GH treatment revealed previously occult metabolic bone disease.The patient a 56-year-old male with panhypopituitarism following treatment for acromegaly, co...

ea0037ep249 | Calcium and Vitamin D metabolism | ECE2015

Analytical evaluation of a new fully automated immunoassay for the quantification of 1,25-dihydroxyvitamin D

Miller Nathalie , Gruson Damien

Background: Quantification of 1,25-dihydroxyvitamin D (1,25(OH)2D) remains challenging because of low circulating concentrations and potent cross-reactivities with steroid-like structures. The most frequent assays for 1,25(OH)2D testing are still based on RIA format with preliminary extraction. The analytical performances and the turnaround time of analysis (TAT) for these assays are limited. Several novel assays for 1,25(OH)2D testing are emer...

ea0011p153 | Clinical case reports | ECE2006

Combined cortisol and aldosterone hypersecretion in two unusual cases of hypertension due to adrenocortical neoplasia

Miller SCM , Connell JMC

Malignant neoplasm of the Adrenal gland is rare and carries a poor prognosis. Presentation is with either symptoms of hormone excess; Cushings Syndrome (Steroids), Conns Syndrome (Aldosterone), Virilisation (Androgens), Feminisation (Oestrogens), Phaeochromocytoma (Catecholamines) or abdominal mass, and patients often present with hypertension. Laboratory investigations confirm clinical suspicion of isolated hormone excess. Surgical resection offers the best chance for long-te...

ea0038fp5 | (1) | SFEBES2015

Generation of GnRH neurons from human embryonic stem cells and induced pluripotent stem cells of healthy individuals and patients with Kallmann’s syndrome

Poliandri Ariel , Miller Duncan , Dunkel Leo

GnRH neurons are vital for reproductive competence. These neurons originate mainly in the nasal epithelium and migrate to the preoptic region of the hypothalamus during foetal development. Defective migration may result in Hypogonadotropic Hypogonadism (HH), a condition in which puberty is never or only partially achieved.Little is known about the molecular ontogeny and regulation of GnRH neurons. Their anatomical localisation and small numbers (about 10...

ea0031p310 | Pituitary | SFEBES2013

Pubertal induction in males with hypogonadotropic hypogonadism using long-acting intramuscular testosterone undecanoate 1g depot (Nebido)

Santhakumar Anjali , Miller Margaret , Quinton Richard

Background: Hypogonadotropic hypogonadism in apubertal males is commonly due to constitutional delay; permanent gonadotropin deficiency becomes more likely with older age at presentation, cryptorchidism and non-reproductive defect, e.g. anosmia. All forms of testosterone induce pubertal development, though short-acting IM preparations are associated with extraphysiological excursions of serum testosterone and are increasingly unavailable. Long-acting testosterone undecanoate I...

ea0019p39 | Clinical practice/governance and case reports | SFEBES2009

Use of testosterone undecanoate 1000 mg (Nebido) injections to induce puberty in 2 men with Kallmann’s syndrome presenting in their 6th decade

Siddaramaiah N , Miller M , Quinton R

Nebido (testosterone undecanoate 1000 mg injection) was used to induce pubertal development in 2 apubertal men with Kallmann’s syndrome, in their 6th decade.Case 1: Originally diagnosed with Kallmann’s syndrome aged 21, but then discontinued treatment for the next 25 years. Now aged 50, he was markedly eunuchoid: G3-4, P3, A1.Investigations: Testosterone 1.0 nmol/l, LH and FSH <0.5IU/l.Normal fe...

ea0012p61 | Endocrine tumours and neoplasia | SFE2006

Difficulties in management of hypercalcaemia in MEN1

Miller HC , Meeran K , Hatfield ECI

A 50 year old lady undergoing elective surgery for pyloric stenosis secondary to chronic ulceration, was diagnosed with primary hyperparathyroidism (calcium 3 mmol/l), elevated parathyroid hormone (PTH). Following exploratory parathyroidectomy, left and right superior parathyroid adenomas were removed. 2 years later she re-presented with hypercalcaemia (Calcium 2.74 mmol/l, PTH 26.5 pmol/l (1.1–6.8 pmol/l)) and appeared Cushingoid. Investigations confirmed Cushing’s ...