ESPE Abstracts

Introduction: Little is known about the effects of puberty suppression (PS) and hormone therapy (HT) on growth and adult height in transgender adolescents. These are topics of interest since height differs between sexes and some transgirls wish to limit their growth. In this longitudinal cohort study, we investigated the influence of PS and HT on growth and the efficacy of growth reduction therapy in transgender girls.Methods:</s...

Introduction: The use of long-term oral corticosteroid in DMD is associated with a range of side effects including secondary adrenal insufficiency. The updated international care consensus (2018) recognizes this important issue and recommends emergency plans to be in place.Aim: This online UK-wide patient survey aims to determine the advice and education given for sick day dosing plans and the impact of the COVID-19 pand...

Background: The presentation of early-onset Primary Ovarian Insufficiency (EO-POI), most often with primary amenorrhea, is at one end of a spectrum spanning 40 years. The aetiology of POI is frequently unclear but next generation sequencing of varied age groups has identified several associated genetic variants. Whether girls with EO-POI are more likely to have a genetic aetiology than those with later presentations remains unknown.<stro...

Background: The female gonadal axis is activated in mini-puberty and thereafter it is quiescent until puberty. We have shown that many girls with no clinical sign of puberty in the age group 1-6 yr. have a rather strong luteinizing hormone (LH) and follicle stimulating hormone (FSH) response to a gonadotropin releasing hormone (GnRH) test. However, stimulated LH and FSH values decreased in the age interval 1-6 yr and no LH/FSH values rose above 0.43. Serum est...

Introduction: Virilization and hirsutism are clinical findings of androjen excess in females mostly due to polycystic ovary syndrome, although androgenic drugs, nonclassic congenital adrenal hyperplasia and androgen secreting adrenal/ovarian lesions are also implicated. 46, XX ovotesticular disorder of sex development (DSD) is the rarest form of DSD with an incidence of less than 1 in 20000.Case report: A 15-year-old ado...

Introduction: Hirsutism is a condition defined as excessive male-pattern hair growth in females most commonly caused by hyperandrogenism. Polycystic ovary syndrome (PCOS), non-classic adrenal hyperplasia (NCAH) due to 21-hydroxylase deficiency and androgen-secreting tumors represent causes of androgen excess. Common features such as hirsutism, polycystic ovaries, oligomenorrhea or amenorrhea, and insulin resistance make it hard to distinguish between the first...

Background: Bardet-Biedl syndrome (BBS) causes early-onset extreme obesity and hyperphagia that is hypothesized to arise from leptin receptor dysfunction. Setmelanotide, a melanocortin-4 receptor (MC4R) peptide agonist, has been shown to induce weight loss in individuals affected by other rare genetic obesity disorders resulting from leptin-melanocortin pathway dysfunction upstream of MC4R.Objective: Report preliminary data on body weight, hunger scores,...

Background: Prevalence and severity of obesity and associated comorbidities are increasing in adolescents. Data on neck and upper arm (UA) circumference in addition to established anthropometric measures to define cardiometabolic risk are limited to date.Methods: Data from Phase I of the EU-funded PreSTART-study (trial registration number NCT02545140) was applied. Demographic, clinical, biochemical and lifestyle data were collected in adolescent...

The Silver-Russel syndrome (SRS) is characterized by an intrauterine growth retardation accompanied by postnatal growth deficiency. Affected individuals typically have proportionately short statue, finger deformities as well as typical facial features. About 10% of individuals with SRS have maternal uniparental disomy for chromosome 7 (UPD7) and 35%–50% showed hypomethylation of the parental imprinting center region 1 (ICR1) of chromosome 11p15.5. In the recent past also ...

Short stature is diagnosed when height is significantly below the average of the general population for that person’s age and sex. To elucidate the factors that modify disease severity/penetrance in short stature, we have studied a three-generation family with SHOX deficiency. We have found that the retinoic acid degrading enzyme CYP26C1 is a modifier for SHOX deficiency phenotypes towards the more severe clinical manifestations (Leri-Weill dyschondrosteosis) and confirme...