ESPE Abstracts

Background: Self-limited delayed puberty (DP) often segregates in an autosomal dominant pattern, suggesting that inheritance is conferred by a small number of genes. However, the underlying genetic background is mostly unknown. By comparison, many genes have been identified where loss-of-function mutations lead to hypogonadotropic hypogonadism (HH). Despite likely overlap between the pathophysiology of delayed puberty and conditions of GnRH deficiency, few studies have examine...

Background: The immunoglobulin superfamily member 1 (IGSF1) gene encodes a plasma membrane glycoprotein enriched in pituitary and testes. Loss-of-function mutations in IGSF1 cause an X-linked syndrome of central hypothyroidism (CeH), macroorchidism, and delayed pubertal rise of testosterone despite normal timing of testicular growth. This syndrome was discovered in patients with CeH; therefore, it is presently unknown whether IGSF1 mutations also cau...

Background: The initiation of puberty is dependent upon an augmentation of gonadotropin-releasing hormone (GnRH) secretion from the hypothalamus. Development of the GnRH neuroendocrine network in embryonic life depends on coordinated migration of neurons from the vomeronasal organ in the nose to the forebrain. We have previously demonstrated that dysregulation in GnRH neuronal migration leads to delayed pubertal onset. Late puberty affects up to 2% of the ...

Background: Timing of puberty is associated with height, cardiovascular health and cancer risk, with a significant public health impact. Previous studies estimate that 60–80% of variation in the timing of pubertal onset is genetically determined. Self-limited delayed puberty (DP) often segregates in an autosomal dominant pattern, but the underlying genetic background is unknown.Methods: We performed whole exome sequencing in 52 members of 7 families...

Background: Congenital adrenal hyperplasia (CAH) is an autosomal recessive condition which leads to glucocorticoid deficiency. During childhood, the main aims of treatment are to prevent adrenal crisis and to achieve normal stature, optimal adult height and to undergo normal puberty. In adults, the aims of treatment are to prevent adrenal crisis, ensure normal fertility and to avoid long-term consequences of glucocorticoid use. Current treatment regimens for CAH with glucocort...

Background: Severe primary deficiency of insulin-like growth factor-1 (IGFD) being characterized by growth failure and short stature in children, constitutes an indication to recombinant human IGF-1 (mecasermin) treatment. It is defined by serum insulin-like-growth factor-1 (IGF-1) levels less than or equal to 2.5 th percentile, height less than or equal to −3 S.D.S., normal growth hormone (GH) secretion and exlusion of secondary causes of IGFD.<p clas...

Background: Combined pituitary hormone deficiency (CPHD) may be congenital or acquired disorder, which affects more than one hormonal axis. Congenital hipopituitarism includes heterogenic group of disturbances. It may be result of mutations or deletions in genes for signaling and transcription factors responsible for pituitary development. The disorder might affect one or multiple family members. The age of appearance and intensity of the first hormone deficiency symptoms may ...

Relationship between polycystic ovary syndrome (PCOS) and thyroid autoimmunity has been recently suggested by several authors. Autoimmune thyroiditis (AIT) is the most prevalent autoimmune disease and link between AIT and PCOS has been reported in adult women. There is a hypothesis that functional autoantibodies could contribute to the development of PCOS. The aim of the study was to evaluate the prevalence of thyroid autoimmunity in adolescent girls with PCOS. Forty five adol...

Introduction: Hashimoto's thyroiditis (HT) and Graves' disease (GD) become increasingly common in children's population. Pathogenesis of autoimmune thyroid diseases (AITD) bases on coexistence of genetic predisposition and environmental triggers which finally drive to breakdown of immune tolerance. Many mechanisms in human body moderate process of inflammation. While some of them answer for up-regulation, some agents like B regulatory lymphocytes (...

Background: Hyperandrogenism in children is associated with excessive adrenal or gonadal androgens secretion. The most common causes of androgens hypersecretion are PCOS, adrenal tumors, Cushing’s syndrome, CAH, and gonadal virilizing tumors. Within the last 15 years single case-reports of hyperandrogenism in female patients with congenital porto-systemic shunts were described in literature. The mechanism of such coincidence is unknown but the role of hyperinsulinism, imp...