ESPE Abstracts

Background: Vitamin D deficiency in adolescents can lead to rickets, osteomalacia, and skeletal deformities such as genu valgus. Chronic deficiency may also have implications for growth and endocrine function. This case report describes the clinical presentation, management, and outcome of severe Vitamin D deficiency in a 15-year-old black girl with genu valgus and abnormal gait.Case Presentation: The patient presented w...

Introduction: Monogenic obesity is a rare form of obesity. It should be suspected if patients have severe early-onset obesity, rapid weight gain in the first 2 years of life, hyperphagia, positive family history, and additional clinical manifestations. Genetic testing is highly recommended in such cases, as new pharmacological therapies for several types of genetic obesity exist. Hence, we sought to evaluate the clinical, laboratory and molecular characteristi...

Background: Leptin, a hormone released from adipose tissue, exerts its influence through the leptin receptor located in the arcuate nucleus of the hypothalamus. Leptin receptor mutation is an extremely rare autosomal recessive monogenic disorder, caused by biallelic pathogenic variants in the LEPR gene. Individuals with leptin receptor deficiency exhibit rapid weight gain, severe early-onset obesity, hyperphagia, hypogonadotrophic hypogonadism, and T-...

Introduction: Growth Hormone Deficiency (GHD) can manifest at birth with hypoglycemia, prolonged conjugated hyperbilirubinemia, and midline defects. Despite typically normal length at birth, early post-natal growth failure can be significant.Case Report: A 4-month-old girl presented to the Failure to Thrive (FTT) clinic with poor weight gain. Born full-term with a birth weight of 3 kg and length of 48 cm, she was initial...

Introduction: Growth Hormone Deficiency (GHD) can manifest at birth with hypoglycemia, micropenis, or prolonged conjugated hyperbilirubinemia. While neonatal length is often normal, early post-natal growth failure can be significant.Case Report: A 2-week-old girl born to a Type 2 diabetic mother (HbA1c 7% at end of pregnancy) via elective LSCS presented with normal birth metrics but was admitted to NICU due to hypoglycem...

Introduction: Children with growth hormone (GHD) often exhibit unique patterns in glucose and insulin metabolism, which could potentially deteriorate upon receiving GH therapy. This therapeutic intervention, while crucial for promoting normal growth, may inadvertently influence the intricate balance of glucose homeostasis and insulin sensitivity,Methods: We reviewed and analyzed 12 studies based on their relevance, in ch...

Introduction: Subclinical hypothyroidism (SCH) in children, characterized by elevated thyroid-stimulating hormone (TSH) levels with normal free thyroxine (T4) levels, presents a clinical dilemma. The decision to treat SCH with L-thyroxine versus adopting a watchful waiting approach hinges on the potential benefits and drawbacks.Aim: This review synthesizes evidence from 20 studies to assess the impact of treatment versus...

Introduction and Methods: We systemically reviewed the literature and analyzed key research papers from 1954 to 2023 on thyroxine action on growth and brain development.Results: (Table) Author(s): Year: Key Finding:...

Background: Pediatric Hashimoto’s encephalopathy (HE) is a rare, progressive and relapsing steroid- responsive autoimmune encephalitis. Children usually present with subacute cognitive dysfunction, psychiatric symptoms, seizures, and movement disorders associated with elevated thyroid antibodies, specifically thyroid peroxidase (TPO) antibodies. We present a rare pediatric Hashimoto’s encephalopathy with super refractory status epilepticus<p cl...

Type 1 diabetes mellitus (T1DM) may be associated with reduced bone mineral density (BMD). Possible pathogenic mechanisms include impaired bone anabolic effect due to decreased insulin and insulin-like growth factor 1 (IGF-I). In addition, hyperglycemia can impair osteoblast function.We measured anthropometric data, glycemic control (HbA1C), insulin dose /kg, calcium, PO4 and alkaline phosphatase and BMD by (DEXA scan at the spine (L2–L4) and at the...