ESPE Abstracts

Benign breast diseases (BBD) have always been neglected in comparison to cancer, despite the fact that there are many more patients with such diseases than patients presenting to a breast clinic for cancer, especially in young women. So far, BBD have been the subject of a relatively few isolated and unconnected studies, and earlier related work has often been ignored. This situation has led to a great deal of confusion, especially because different authors have their own nomen...

Primary (premature) ovarian insufficiency (POI) is defined as a loss of ovarian activity before the age of 40, and is characterized by menstrual disturbances (amenorrhea or oligomenorrhea) with elevated gonadotropins (follicle-stimulating hormone [FSH] ≥ 25 IU/L) and low serum estradiol levels. The incidence of POI is around 1 per 100 women overall, and 1 per 1000 women under the age of 30 years. POI leads to infertility and an increased risk of osteoporosis and cardiova...

Background: Young adult patients with childhood-onset GH deficiency (GHD) whose GH replacement therapy (GHRT) is discontinued exhibit negative metabolic and physiological effects, reversible through GHRT.Objective and hypotheses: To report the characteristics and 5-year GHRT in adults with childhood-onset GHD.Method: Analysis of the subgroup of adults with childhood-onset GHD included between March 2003 and October 2006 in KIMS. In...

Background: Moya Moya disease is a chronic cerebrovascular angiopathy characterized by progressive stenosis of terminal part of internal carotid vessels and the compensatory development of collateral vessels. We present here the case of a young boy with growth hormone deficiency (GHD) and testicular insufficiency that was diagnosed with Moya Moya syndrome.Case presentation: A 12.9 year-old boy of Serbian origin was referred to the Endocrinology Departmen...

Background: Beckwith–Wiedemann syndrome (BWS) is an overgrowth syndrome with an increased risk of embryonic tumors during early childhood. About 80% of patients with BWS show a molecular defect in the 11p15 imprinted region. Loss of methylation at the imprinting control region 2 (ICR2) is the most frequent defect which leads to a loss of expression of the CDKN1C gene, increasing cell proliferation. These epigenetic defects occur mostly as a mosaic event.<p cl...

Management of patients presenting a chronic endocrine or metabolic disease during transition period is a challenge for multiple reasons. The department of Adult Endocrinology and Reproductive Medicine in Pitie Salpêtrière Hospital, Paris has been involved in the management of such patients for many years. However, in our own experience, 81% of patients are still followed-up after 1 year, 71% after 3 years and only 49% after 5 years. Based on such experience, we decid...

Background: Non-classical congenital adrenal hyperplasia (NCCAH) may present during childhood, adolescence or even adulthood with various degrees of hyperandrogenism. Diagnosis is established through tetracosactide (Synacthen®) test and genotyping. Cortisol insufficiency has rarely been described in NCCAH.Objective and hypotheses: To describe cortisol response to tetracosactide test in NCCAH patients.Method: Retrosp...

Objective: KIMS (Pfizer International Metabolic Survey) was a postmarketing surveillance study of growth hormone (GH) replacement in adults and adolescents with GH deficiency (GHD) that concluded in October 2012. This analysis aimed to evaluate the overall safety outcomes from the full cohort of GH-treated patients of KIMS.Methods: Data were collected on adults and adolescents with confirmed GHD and closed epiphyses trea...

Background: Mutations in the gene encoding LHX4, a homeodomain-containing factor with two LIM domains, are responsible for dominant hypopituitarisms with incomplete penetrance and variable expressivity. To date, only 14 unambiguous LHX4 mutations have been reported. Among those cases, 12 had an absent or ectopic posterior pituitary (EPP) and/or an abnormal sella turcica.Objective and hypotheses: To i) assess the contribution of LHX4 in combined pituitary...

Background: Brain tumours are the most frequent solid tumours during childhood. Many of these patients develop endocrine disorders.Objective: To describe our cohort of patients with primary brain tumours, followed in the Pediatric Endocrinology Unit at Hôpital Universitaire Necker–Enfants Malades, Paris, France between 2010–2015, to assess current practice and propose recommendations.Methods: Retrospective a...