ESPE Abstracts

Leptin is a type I cytokine and belongs to the long-chain helical cytokine subfamily just as GH, IL-6 and G-CSF. Leptin is produced mainly in white adipose tissue and thereby reflects body energy stores. Leptin serum concentrations are high in obese and low in underweight individuals or in those with low body fat e.g. in athletes and in patients with lipodystrophy. The leptin/leptin receptor system is crucial for the regulation of body weight. Rare homozygous mutations in the ...

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: Subcutaneous fat necrosis of the Newborn (SCFN) is a rare disease occurring in the first days of life. Characteristically the infants show hard nodules in subcutaneous tissue, purple or erythematous in color and appear on the upper back, cheeks, buttocks and limbs. In most cases SCFN is a self-limiting disease, as the nodules disappear in up to 6 months. A severe complication associated with SCFN is hypercalcemia. Pathophysiological mechanisms caus...

Background: Heat generation in UCP-1 active cells as present in brown adipose tissue contributes to the regulation of energy homeostasis. Brown adipose tissue is known to be present in neonates and infants and has recently also been demonstrated in children and adults. Interestingly, a transition of white adipocytes into a brown phenotype has been documented in vitro in mouse and human cells, yet the underlying mechanisms are still not resolved. Using transcriptome an...

Introduction: Elevated obesity prevalence among transgender individuals compared to cisgender control groups or general population have been reported in some studies. Whether there is a higher prevalence for obesity in transfeminine and transmasculine persons at different age groups has not yet been systematically studied.Methods: We performed a systematic literature search using Pubmed and Google Scholar. Following sear...

Introduction: Up to now, no systematic literature review has studied whether overweight or obesity compared to normal weight in childhood and adolescence is associated with an increased fracture risk (fractures overall and by site).Methods: The systematic literature search was conducted in PubMed/Medline, Embase, Cochrane Library, BIOSIS databases using defined keywords and MeSH terms. 1,677 publications were identified ...

Introduction: Aromatase excess syndrome (AEXS) is a rare, autosomal dominant disorder, characterized by enhanced extraglandular aromatization of androgens and estrogen excess. Genomic rearrangements in chromosome 15q21 are found to result in overexpression of the aromatase gene CYP19A1. In males it is characterized by pre- or peripubertal gynecomastia, hypogonadotropic hypogonadism, advanced bone age and short adult height. Only a few female patients have been...

Background: Secretion of catecholamines by adipose tissue M2 macrophages was recently proposed as a molecular mechanism leading to activation of brown adipose tissue and heat generation in mice. However, published data are conflicting and it is not clear whether this pathway might play a role in humans. To shed light on this, we studied macrophage polarization in human white and brown adipose tissue and related it to thermogenic gene expression.Methods: ...

Background: Published case reports and anecdotal experience suggest a positive effect of dexamphetamine on impetus and weight in patients with hypothalamic obesity.Objective and hypotheses: We aimed to observe these effects in our patients who are offered off-label treatment with dexamphetamine.Method: Between 2010 and 2013, patients starting dexamphetamine treatment were enrolled in a prospective observation study. BMI–SDS wa...

Background: Congenital generalized lipodystrophy (CGL) is characterized by the absence of most adipose tissue at birth due to an adipocyte differentiation block. For several forms of CGL, the underlying mutation and pathophysiological pathway has been identified. However, for many cases the genetic cause is still unknown.Objective and hypotheses: We report a patient with CGL who showed a complete absence of fat apart from protective fat pads in a postnat...