ESPE Abstracts

Background: Congenital adrenal hyperplasia (CAH) arises from mutations in CYP21A2 gene, which encodes for the steroidogenic enzyme 21-hydroxylase. Currently employed chorionic villus sampling and amniocentesis provide genetic results at ~14 weeks of gestation at the earliest. At this time, the genitalia of the affected female foetuses have already become virilized. To prevent genital ambiguity, prenatal treatment with dexamethasone must begin on or before gestational ...

Beckwith-Wiedemann Syndrome (BWS) is an overgrowth disorder, occurring in 1/13,700 births. BWS is usually sporadic, but 15% of cases are familial. Variable phenotype may include overgrowth, macroglossia, abdominal wall defects, neonatal hypoglycemia, lateralized overgrowth and predisposition to embryonal tumors. We describe three male cases of BWS followed at our clinic.Case 1: Born of a gestation complicated by gestational diabetes. Del...

Background: The detection of hyperglycemia on occasional evaluation raises the diagnosis of diabetes mellitus (DM). Maturity onset diabetes of the young (MODY), namely glucokinase deficiency, should be considered in cases of non-progressive hyperglycemia associated with a positive family history.Objective and hypotheses: We describe two unrelated cases of asymptomatic hyperglycemia where glucokinase mutations were detected.Method: ...

The homeostatic control of energy balance is tightly regulated. Appetite and energy expenditure regulation involves neurons in the hypothalamus as well as other brain regions, including the limbic system, amygdala and the brainstem. Hypothalamic obesity is a well-recognized consequence of lesions such as craniopharyngiomas and other tumors in the hypothalamic region. Less known is obesity related to tumors in other brain regions. The child presented at 14 years of age with fai...

Introduction: Treatment with recombinant growth hormone (rGH) is safe and has greatly improved the approach of children and adolescents with growth hormone deficiency (GHD) and other growth disorders. Some studies show that most of the height gain associated with GH treatment occurs in prepubertal years. The aim of our study was to evaluate the effect of age at start of the treatment on final height in children with isolated or GHD in a Portuguese cohort.<p class="abstext"...

Background: Type 1 diabetes (T1D) is a T cell-mediated autoimmune disease. A more complex immunological picture is being unraveled, with a key role of innate immune cells at disease onset and maintenance. For new therapies based on immune-modulation to be possible, immune characterization of T1D patients is crucial.Objective and hypotheses: We aimed to characterise innate and adaptive immune cells of T1D children at a well-defined ‘onset-window&#146...

Case presentation: A 7 year old boy was presented to us with height acceleration, symmetric breast development equivalent to Tanner stage B2 and sparse dark hair in the pubic region (PH2). Testicular volume equaled to 2ml, while external genitalia showed no clear signs of androgen effect. The patient’s biological father is a transgender woman who started a medical gender transition before the patient’s birth. She has been continuously receiving tra...

Background: Turner syndrome (TS) occurs in 1/2000 newborn girls. Primary ovarian insufficiency (POI), due to an increased follicular apoptosis, is a classic feature of TS. It occurs in more than 95% of TS patients. Therefore, oocyte donation is often the only option for women desiring a pregnancy.Objective and hypotheses: Few studies have reported the outcome of spontaneous pregnancies (SP) in TS patients.Method: We evaluated the p...

Background: In the last decades a rapid increase in the incidence of childhood type I diabetes (TIDM) has been reported worldwide. To stop the progressively advancing process immunosuppressive and nutritional trials have been made, but failed. Epidemiological studies by our group performed in several countries have shown that the season during which children who developed TIDM were born differed from that in the general population; suggesting that the initial trigger for TIDM ...

We have investigated two siblings, a sister and a brother, who presented at the age of 2 years, with central hypothyroidism, short stature and early onset obesity. The older sister presented at the age of 6 months with central hypothyroidism and was started on a low dose of thyroid hormone (25 ug l-thyroxine). Her growth continued to be poor and at the age of 2 years and 6 months her height was −3.98 SDS. She was started on growth hormone followed by a rapid catch-up gro...