ESPE Abstracts

Objectives: To summarize the diagnosis and treatment course of hyperkalemia in twins, review the diagnosis approach of hyperkalemia in neonate and guide clinical practice.Methods: The clinical manifestation, laboratory examination, the course of diagnosis and treatment of the two cases were summarized.Results: A pair of twin girls, 38 days after birth, came to our department because of ‘Hyperkalemia more than one month’. ...

Recently, we identified Neuritin 1 (NRN1) as preferentially expressed in human white compared to brown adipocyte progenitor cells. In mice, Nrn1 deficiency leads to a reduction in body weight, indicating that it might regulate body weight. In this study, we aim to address the function of NRN1 regarding adipocyte metabolism in vitro and in vivo. We used human SGBS preadipocytes as an in vitro model system. NRN1-deficient cells were generated using len...

Adolescent girls may present to their pediatric or reproductive endocrinologist seeking advice regarding contraception. In 2014, there are many methods available, and the risks and benefits of each must be weighed in determining which method is most appropriate for a given patient. This lecture will provide an overview of contraceptive methods, with a focus on oral contraceptive pills, transdermal patches, and the vaginal ring. Methods will be reviewed with a focus on thrombot...

Introduction: PTEN hamartoma tumor syndrome (PHTS) is a rare genetic disorder caused by germline mutations in the tumor suppressor gene Phosphatase and tensin homologue (PTEN), a negative regulator of the phosphoinositide-3 kinase (PI3K)/AKT/ mechanistic target of rapamycin (mTOR) pathway. Children with PHTS frequently develop adipose tissue overgrowth, so called lipomas that can lead to loss of organ function due to displacing lipoma growth. Currently, except...

Background: Pituitary gigantism is a rare condition that occurs due to excessive GH secretion during childhood, usually associated with a pituitary adenoma. We describe a case that required the full spectrum of standard therapeutic options available.Case report: A 15-year-old boy presented with a 3-year history of intractable occipital headaches and being psychologically distressed by his tall stature (203 cm). He had mild clinical features of GH excess....

Background: GH treatment for ISS received first approval in the USA in 2003 based on data from two controlled clinical trials. Eligibility is restricted to those with baseline (BL) height standard deviation score (HtSDS) ≤−2.25; other approvals followed, but not in Europe.Objective and hypotheses: To assess outcomes of GH therapy in a large cohort of patients (pts) treated in routine clinical practice.Methods: Short-ter...

Background: Donohue syndrome (DS) is the most severe form of insulin-resistance due to autosomal recessive mutations in the insulin receptor gene. Typical features include pre-/postnatal growth impairment, hyperinsulinaemic hyperglycaemia with fasting hypoglycaemia, nephrocalcinosis, recurrent sepsis, little adipose tissue, soft tissue overgrowth, hirsutism, acanthosis nigricans and facial dysmorphism. However, additional comorbidities may be present, affecting prognosis.<...

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...

Background: Vitamin D deficiency in children is a common cause of rickets, and a potential risk factor for extraskeletal adverse health outcomes. Its prevalence in Haiti has not been assessed.Objective and hypotheses: To examine the prevalence of vitamin D deficiency in dark-skinned young children in Haiti.Method: Cross-sectional study of healthy Haitian children 9 months to 6 years across thr...

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...