ESPE Abstracts

Short stature is one of the most common concerns presented to pediatric endocrinologists. ISS describes a heterogeneous group of children with a height of more than 2 SD score (SDS) below the corresponding mean height for a given age, sex, and population group without underlying aetiology. The primary objectives of GH treatment are acceleration of growth velocity to promote normalization of stature during childhood and attainment of normal FAH.Ob...

Background: Short stature is the commonest problem encountered in endocrine clinics. Accuracy in opportunistic measurements is helpful in guiding subsequent management regarding medication doses including growth hormone treatment. Our study aimed to assess the prevalence and factors affecting inaccurate height measurements in different non-Endo clinic visits in our tertiary institute.Methods: A retrospective cohort study...

Introduction: Disorder of sex development (DSD) is a challenging condition confronting the patients, their relatives and the clinicians. It is more challenging when this disorder is associated with other extra-genital malformations. This makes their overall management more complex than if they just had DSD. Moreover, some of them have disturbed testicular function.Aim of the work: this work aimed at clinical review of 9 ...

Introduction: Robinow syndrome is a rare genetic disorder characterized by mesomelic dwarfism, characteristic facial features, skeletal abnormalities and external genital abnormalities. Genital abnormalities may be noted in these patients and may cause confusion in gender assignment. In males, the characteristic pattern is micropenis with or without cryptorchidism, webbed penis or hypoplastic scrotum. In females, the anatomical defect is not always evident.The...

Background: Topical steroids are commonly used in clinical practice for management of dermatological diseases. Clobetasol propionate is the most potent. They are systemically absorbed and may cause adverse side effects due to improper and prolonged use, such as iatrogenic Cushing's syndrome and adrenal insufficiency due to suppression of hypothalamic-pituitary-adrenal axis.Case presentation: A 7-month-old boy referre...

Background: Disorders of sex development (DSD) comprises a heterogeneous group of conditions involving interference with normal sex differentiation and hormonal production in the embryo. Imaging is a very useful tool in assessing the patient’s phenotypic sex through identifying the internal genital anatomy and the adrenal glands. Ultrasonography is a cheap and readily available tool. MRI has disadvantage of being expensive with long waiting lists especially in developin...

Introduction: Disorders of sex development are challenging conditions for patients, parents and the interdisciplinary health care team. Sex assignment of these patients needs optimal hormonal profile and molecular diagnosis. This study aimed at finding a new tool for differentiation between partial androgen insensitivity and 5 alpha reductase deficiency especially when the molecular diagnosis is unavailable or highly expensive if available.Methods and Su...

Background/Aims: 46,XY gonadal dysgenesis (GD) is classified as complete (CGD) or partial (PGD) depending on gonadal morphology and function. In contrast to the typical female external genitalia in CGD, the phenotype of PGD is variable depending on androgen production. A diagnosis of PGD is based on clinical/biochemical features, gonadal histology and genetic findings. The aim of this study is to characterise these features, particularly histological, in a lar...

Introduction: Post-marketing surveillance registries provided extensive information about the safety and efficacy of daily growth hormone (GH) therapy during treatment. With the availability of novel long-acting GH (LAGH) therapies, it is important to determine whether the novel molecules or the different pattern of GH exposure lead to changes in the efficacy and safety profile. Therefore, new surveillance registries of LAGH are warranted.<p class="abstext...

Background: The need to understand the relationship between bone, muscle, and fat within the bone-muscle unit has recently gained great prominence. Although high resolution (HR) MRI is a non-invasive imaging modality that can provide this information, there is limited expertise in children and young people.Objectives: To establish MRI-based normative data for bone, bone marrow adiposity and muscle adiposity in children a...