ESPE Abstracts

Background: Steroid hormones produced by the human fetal adrenals (HFA) are suggested to regulate intrauterine homeostasis and the maturation of certain fetal organs necessary for extrauterine life. Appropriate development and hormonal function of the HFA therefore are critical for normal fetal maturation and survival. Little is known about the possible relationship between the expression of steroidogenic enzymes and corresponding transcription factors in the HFA in vivo</...

Background: Donohue syndrome (DS) is the most severe form of insulin-resistance due to autosomal recessive mutations in the insulin receptor gene. Previous reports demonstrate a role for recombinant human IGF1 (rhIGF1), however optimal treatment strategy remains unclear.Case series: Four males with DS have been treated with bolus rhIGF1 (see table below). They had no IGF1 response on an IGF1 generation test. No long-term side effects of rhIGF1 were repor...

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: Previous descriptions of the steroidogenic capacity of human foetal adrenal glands in an ex vivo culture system focused on the classic androgen pathway and the alternative DHT pathway. However, no information is available on the abundance and role of the adrenal-derived 11-oxygenated androgens during foetal development, and how their levels correlate to classic androgens.Aim: To characterise the ster...

SLC34A1 gene encodes for the sodium-phosphate cotransporter 2A (NPT2a), highly expressed in the proximal renal tubule. Three different human phenotypes have been linked with NaPi-IIa variation: Hypophosphatemic Nephrolithiasis with Osteoporosis, Renotubular Fanconi Syndrome Type 2 and Infantile Hypercalcemia 2 (HCINF2). Dysfunctional NPT2a can lead to renal phosphate loss, hypophosphatemia, increased CYP27B, decreased CYP24A1 expression with increased 1,25(OH)2D and suppressed...

Introduction: The assessment of bone maturation with artificial intelligence (AI) has introduced new straightforward indicators of bone health monitoring related the much more complex and expensive method of measuring bone density with DEXA (Dual-Energy X-Ray Absorptiometry). Bone Health Index (BHI) describes bone mass as a function of cortical thickness, width and length of the three middle metacarpals, using digital hand X-rays for bone age evaluation from D...

Third generation AIs have been repurposed as an off-label treatment in boys and girls, as they can retard closure of the epiphysial plate expanding the period of growth. Assessment of digital hand X-rays has introduced new follow-up indexes of bone health: Bone Health Index (BHI) from DICOM files describes bone mass as a function of cortical thickness, and Metacarpal Index (MCI) from digitized files expresses the cortical thickness standardized for the outer bone diameter at t...

Vitamin D is a steroid hormone, essential for the immune system and bone health. Given that sun exposure is meant to provide at least 80% of daily vitamin D requirements, the COVID-19 pandemic is likely to have a considerable influence on calcium metabolism We retrieved anonymized data on calcium metabolism parameters assessing the occurrence of subclinical hyperparathyroidism – subclinical nutritional rickets (PTH ≥ 45 pg/ml with normal serum Ca ≤ 10.5 mg/dl) in c...

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...