ESPE Abstracts

Introduction: Bloom syndrome (BS) is a rareautosomal recessive disorder caused by mutations in the BLM gene, located on the long arm of the chromosome 15 (15q26.1). The typical symptoms of the disease are short stature, low birth weight, dysmorphic features including long, narrow face (dolichocephaly), micrognathism and prominent nose and ears. Other characteristic features include a rash following sun exposure, hyper-pigmented areas or cafe-au-lait s...

Introduction: PTH is one of the principal regulatory hormones for calcium and phosphate homeostasis. Hypoparathyroidism, caused by reduced parathyroid hormone (PTH) concentration is characterised by hypocalcemia and hyperphosphataemia. Hypoparathyroidism in children can occur either as part of a genetic syndrome, autoimmune disorder, be acquired secondarily to thyroidectomy or some destructive process of the glands. If the reason for decreased PTH concentration is unknown, it ...

Simpson-Golabi-Behmel syndrome is a condition which classified as an overgrowth syndrome and affects many parts of the body and occurs primarily in males. Infants have macrosomia at birth and continue to grow and gain weight at an unusual rate. The incidence of Simpson-Golabi-Behmel syndrome is unknown. Mutations in the GPC3 gene are the most common cause of Simpson-Golabi-Behmel syndrome. About 250 people worldwide have been diagnosed with this disorder. About 10 percent of p...

Non-classic form of congenital adrenal hyperplasia due to 21-hydroxylase deficiency is the most common disorder, which is associated with the use of hydrocortisone. Clinically patients present the GnRH-independent precocious puberty with rapid growth and advanced bone age. Inappropriate inhibition of androgen secretion can induce precocious central puberty. We present the case of 9-year-old girl, who was treated of the congenital adrenal hyperplasia due to 21- hydroxylase defi...

Introduction: Central Precocious Puberty (CPP) results from the premature activation of the hypothalamic-pituitary-gonadal axis. Is defined by the onset of secondary sexual characters before 8-years-old in girls and 9-years-old in boys. It’s associated with accelerated growth and advanced bone maturation and can lead to early epiphyseal fusion and reduced final height at adult age.Aims: To evaluate and compare the ...

Introduction: Since the 1980s, long-acting gonadotropin-releasing hormone analogues (GnRHa) have been the standard treatment for central precocious puberty (CPP).Aims: To evaluate the short-term response (at 6 and 12 months) of treatment with GnRHa in female children diagnosed with CPP, regarding growth, bone maturation (Greulich and Pyle method), predicted adult height (PAH) and pubertal development (Tanner stages)....

Preliminary results:Objective: Although low birthweight (bw) and unfavourable intrauterine conditions have been associated with metabolic sequelae in later life, little is known about their impact on steroid metabolism. We studied genetically identical twins with intra-twin bw-differences from birth to adolescence to analyse the long-term impact of bw on steroid metabolism.Methods:...

Background: P450 oxidoreductase (POR) mutations can present with disordered sexual development (46,XX virilisation as well as 46,XY under-masculinisation), perturbed steroidogenesis and mild to severe skeletal malformations. As POR is an obligate electron donating cofactor to many P450s, and as this interaction may vary from partner to partner, the phenotypic spectrum of PORD is extremely broad. Therefore, to characterize novel POR mutations, specific testing is required.<...

Here, we report on a female adolescent with overweight and a very high DHEAS serum level. The hypothesis that the origin of DHEAS excess was the presence of either an ovarian or a suprarenal DHEAS-producing tumor was not confirmed. Sonographic and MRT investigations did not support its presence. In addition, effective dexamethasone suppression of DHEA and DHEAS excluded this diagnosis. Steroid sulfatase (STS) hydrolyses alkyl and aryl steroid sulfates to their unconjugated for...

Background: Disorders of androgen synthesis are rare causes of 46,XY disorder of sex development (DSD) that present with undervirilization or sex reversal.Objective: A history of a female adolescent with 46,XY DSD, initially suspected to have complete androgen insensitivity is presented.Methods: Patient history was obtained from the medical records. Urinary steroid profile was preformed using gas chromatography/mass spectrometry. T...