ESPE Abstracts

Background: Final height (FH) is reduced in congenital adrenal hyperplasia (CAH), due both to overtreatment by hydrocortisone therapy and to advanced epiphyseal closure linked to hyperandrogenism by Hydrocortisone therapeutic insufficiency.Objective and hypotheses: To evaluate the efficacy and safety of the addition of an androgen receptor competitor and an aromatase inhibitor to reduced hydrocortisone doses.Method...

Background: Bartter syndrome represents a rare severe condition, autosomal recessive, corresponding to several genes, characterized by an illness of the renal ascending branch of the handle of Henle. Only 15 cases of BSHPT have been communicated, either in publications or orally, but none presented such severe bone manifestation as ours.Objective and hypotheses: To present bone features of two patients suffering from severe BHSPT, so as the therapeutic a...

Background: Leprechaunism, due to a mutation of both alleles of insulin receptor gene, is a most severe and precociously life-threatening condition, difficult to treat.Objective and hypotheses: In leprechaunism rhIGF1 may replace insulin through I the insulin-like metabolic properties of its own receptor.Method: rh IGF1 was continuously subcutaneously administered through a.pump from the age of four months and adjusted according to...

Background: Genital surgery in disorders of sex development (DSD) has been an area of debate over the past 20 years. One can question and even defy the routine practice to surgically align genitalia to the sex of rearing, as early as possible. However, despite multitude of data showing detrimental effects to genital sensation and sexuality, few patients born with ambiguous genitalia have remained unoperated into adolescence.Objective and hypotheses: To a...

Background: Congenital adrenal insufficiency represents a life-threatening condition. Among its multiples causes, mutation of NNT1 is the most recently discovered. We had the opportunity to observe one case. NNT1 is a gene coding for a membrane protein which protects cells from oxidative stress.Objective and hypotheses: As few cases have been published until now, we describe a new case.Results: In a consanguineous (second grade) Al...

Background: Early diffuse hyperinsulinism represents a life- and brain-threatening condition. Besides enteral or parenteral additional supply, diazoxide represents the first line treatment. For diazoxide-resistant (DREDHI) patients, ablative surgery exposes to severe local complications, exocrine pancreas insufficiency and diabetes or residual hypoglycaemia.Objective and hypotheses: To evaluate the pros and cons of non-surgical treatment of DREDHI.<p...

Background and objectives: To study short-term effects of consequent weight loss on ovarian function and its correlation with morphometric and metabolic changes at 1 and 2 years after a laparoscopic adjustable gastric banding (LAGB) placement in severely obese adolescents.Subjects and methods: Our retrospective and observational study was conducted between July 2015 and January 2016 in a single center. Menstruations, anthropology and biological data were...

Background: A recent report (JCI, 2014) described a new homozygous NR5A1/SF-1 mutation in a patient with XY DSD and spleen agenesis. To date, no other data have confirmed this association, raising the hypothesis of fortuity.Case presentation and method: We had the opportunity to study an adolescent girl referred for virilisation during puberty. She presented voice deepening and clitoral hypertrophy. Biological investigations showed high plasma testostero...

Background: Glibenclamide has proven to be efficient for patients with neonatal diabetes owing to potassium channel mutations. Anyway its pharmaceutical form is not suitable for young children or infants. The tablets dosage is too high for most infants and must be crushed and diluted before administration. We developed a suspension of glibenclamide (EMA Orphean drug designation january 2016) fitting recommendations of drug administration to allow a precise dosage and designed ...

Background: Pure gonadal dysgenesis 46 XY is a rare form of sexual differentiation disorders.Objective and hypotheses: This study describes the diagnosis circumstances, clinical, biological and radiological presentation, and genetic aetiology of 14 patients with a 46 XY pure gonadal dysgenesis.Method: It is a retrospective descriptive multicenter study from Necker Hospital (Paris) and Lille university hospitals.<p class="abstex...