ESPE Abstracts

Context: Premature breast enlargement before the age of 8 in girls is caused by a broad spectrum from premature thelarche to central precocious puberty. Treatment with GnRH analogues aim to delay either early onset of menstruation with its psychological consequences and/or early epiphyseal fusion. The Indication of treatment is a challenge classically based on the result of the luteinizing hormone (LH)-releasing hormone (LHRH) stimulation test.<p class="ab...

Introduction: Pharmacological doses of glucocorticoids (GC) reduce inflammation and preserve muscle function in boys with Duchenne muscular dystrophy (DMD) but cause almost universal pubertal delay. Long term consequences of GC on androgen status in young men who have received testosterone for pubertal induction remain unknown.Objective: To determine the longer-term outcome after a 2-year pubertal induction regimen using...

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: Adolescents presenting with persistent gender dysphoria (GD) may undergo pubertal suspension via the use of GnRH analogues such as triptorelin (Gonapeptyl Depot) to allow further consideration of the dysphoria. Locally, a standard monthly dose of this drug is administered for an initial target duration of 12 months prior to re-assessment.Objective and hypotheses: The need to obtain full gonadotrophin and sex hormone suppression to ensure accu...

Background: We previously reported the first human mutation in mini-chromosome maintenance homologue 4 (MCM4) in a cohort of patients with adrenal failure, immunodeficiency and chromosomal fragility.Objective and Hypotheses: To report the full endocrine phenotype of 14 patients with MCM4 mutations.Method: Patients case notes were examined and investigations performed to fully assess adrenal function, pubertal development, gonadal f...

Background: Although multiple imprinting defects have been found by genetic analysis in a subset of patients with Beckwith–Wiedemann Syndrome (BWS), very few patients have been described with both genetic and clinical signs and symptoms of multiple diseases caused by imprinting defects.Methods: Methylation analysis of the KCNQ1OT1 gene was performed by Southern blot, methylation analysis of the GNAS region was done by MLPA.<p class="abs...

Background: Ovotesticular disorder of sex development (DSD) is characterized by the presence of both testicular and ovarian tissue in the gonads of an individual. Selective gonadal surgery is usually performed in infancy.Objective and hypotheses: Little is known about the long-term outcome of conservative gonadal surgery in ovotesticular DSD. We present our experience in a 46,XX girl diagnosed in the neonatal period.Method: The pat...

Context: Cryptorchidism, a common consequence of HH, is treated with orchiopexy. We previously observed that continuous subcutaneous infusion of gonadotropins restored normal serum testosterone and inhibin B concentrations in two infants with hypogonadotropic hypogonadism (HH) and was associated with testicular descent in one.Objective: Test if subcutaneous gonadotropin infusion within the first year of life can allow testicular descent in eight boys wit...

Autosomal dominant pseudohypoparathyroidism type-Ib is characterized by renal parathyroid hormone resistance, with resultant hypocalcemia and hyperphosphatemia. This disorder is associated with an isolated loss of methylation at GNAS exon A/B and most patients carry maternal microdeletions in the neighboring STX16 gene. The shortest deletion overlap is a 1.2-kb region spanning STX16 exon 4 and thought to harbor a cis-acting element regulating GNAS A/B methylation. However, abl...

Background: The side chain cleavage enzyme (CYP11A1) catalyzes the conversion of cholesterol to pregnenolone, the first rate-limiting step of steroidogenesis. CYP11A1 mutations are associate with primary adrenal insufficiency (PAI) and, in 46,XY patients, Disorders of Sex Development (DSD). A total of 35 patients (27 families) are reported including 15 intermediate forms with delayed onset of PAI, variable degrees of DSD or normal male phenotype.<p class="abstext"...