ESPE Abstracts

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...

Introduction: The degree of consistency between the findings from next generation sequencing (NGS) and detailed endocrine assessment is unclear in boys with XY DSD.Objectives: Examine the range of endocrine and molecular genetic variation in boys undergoing evaluation for XYDSD.Methods: Boys with XYDSD who were evaluated in Glasgow from 2016 to 2018 were included. Sequence variants...

Background: Disorders of sex development (DSD) may be associated with adverse psychosocial and psychosexual outcomes in adults. However, there is a paucity of information on health-related quality of life outcomes in parents and young children with DSD.Objective: To evaluate the use of parent-reported outcome (PRO) questionnaires that can be routinely used in the outpatient setting to assess the impact of DSD on parents ...