ESPE Abstracts

Background: Sulfonylurea therapy (SU) allows a better metabolic control than insulin in patients with neonatal diabetes secondary to mutation in potassium channel subunits (ND-K). Most of these patients have neurological and neuromotor developmental impairments whose changes under SU has not been studied in a systematic and prospective way in a large cohort.Objective and Hypotheses: To demonstrate the beneficial effect of SU on neuropsychological functio...

Background: Gender dysphoria is characterised by an incongruency between the perceived gender identity and the biological sex. The cause of gender dysphoria is unclear and environmental as well as genetic factors may be important. It is well known that during sexual differentiation sex steroids control not only the differentiation of the internal and external genitalia but also the sexual differentiation of the brain. Structural as well as functional differences have been show...

Background: There is a distinct increase in the prevalence of depression with the onset of puberty. The role of peripubertal testosterone levels in boys in this context is insufficiently understood. Moreover, the number of CAG repeats of the androgen receptor gene (AR) and the depression status (subclinical vs. overt depression) may modulate the role of testosterone, but this has not yet been studied in a clinical sample.Methods:...

Objective: Report 5 new variants of 7 KMT2D/KDM6A and summarize the clinical manifestations and the mutational spectrum of Kabuki syndrome (KS) by analyzing the reported Chinese cases.Methods: Blood samples were collected for whole-exome sequencing (WES) for 7 patients and their parents if available. Phenotypic and genotypic spectra of 39 previously published unrelated Chinese KS patients were summarized.<p ...

I will review the latest developments in imaging of the brain using magnetic resonance. Over the last twenty years imaging of the diffusion of water molecules in the tissue has emerged as the method of choice for measuring the structure of brain tissue. The development of so called diffusion tensor imaging had allowed measurement of anisotropy which reflects how aligned or coherent is the underlying structure of myelinated axons in white matter. For example we have shown in ch...

Background: Endocrine disruptors (ED) are chemicals that can mimic hormones and interfere with their receptors, causing endocrinological abnormalities.Clinical report: We present the case of a previously healthy, melanodermic, two-year-old female, who had a three-month evolution of clitoromegaly and generalized hypertrichosis. Endocrine blood work showed suppressed serum androgens suggesting steroid exogenous contact. Karyotype, bone age...

Hashimoto encephalopathy is an autoimmune encephalopathy predominantly diagnosed in the adult population. In the pediatric population, the mean age is determined to be 14 years, with the majority of adolescent females. The diagnosis of Hashimoto encephalopathy is clinical and based on the highly variable neuropsychiatric conditions, often affecting more than one area of the central nervous system, the detection of antiperoxidase or antithyroglobulin antibodies in serum, and on...

Introduction: X-linked adrenoleukodystrophy (X-ALD) is an inherited peroxisomal disease characterized by beta oxidation disorder that causes the accumulation of very long chain fatty acids (VLCFA) in all tissues. It presents with clinical signs due to accumulation of VLCFA in brain white matter, testes, adrenal cortex and skin fibroblasts. Here, we will present a case applied to the outpatient clinic due to not going through puberty period and who was diagnose...

Background and objectives: The diagnosis of CAH is a matter of urgent attention as a missed diagnosis can add to mortality due to adrenal insufficiency and inadequate sex of rearing which is psychologically traumatic both for the parents and the child. It is also a matter of grave concern because screening facilities are non-existent in Pakistan along with increase prevalence of intra family marriages thus adding to the increase incidence of this condition. La...

Background and aim: Congenital growth hormone deficiency (cGHD) is a rare but life-threatening condition whose diagnosis is challenging in the absence of reliable reference values, both in healthy neonates and in preterm ones. We recently estimated GH reference interval in 1036 healthy, at-term newborns (HN) form dried blood spot samples using a previously validated analytical method.Aim: of this study is to provide valu...