ESPE Abstracts

Background: Peripheral precocious puberty (GnRH independed): precocious development of secondary sexual characteristics may also be caused by mechanisms that do not involve activation of pulsatile GnRH secretion. Familial male-limited precocious puberty, also known testotoxicosis is a rare dominant form of gonadotropin independent precocity caused by constitutively activating mutations of the human LH choriogonadotropin receptor (LHCGR). If do not treat with appropriate drugs ...

The CYP19A1 gene product cP450aromatase enzyme is responsible for estrogen synthesis and androgen/estrogen equilibrium in many tissues; placenta and gonads are being the leading tissues. cP450aromatase deficiency has important effects on clinical phenotype due to excessive amount of androgen accumulation and insufficient estrogen synthesis in the pre- and postnatal periods. We identified a new point mutation in the CYP19A1 gene causing aromatase deficiency in three Turkish fam...

Background: WBS is a rare genetic disorder characterized by distinctive facial features, intellectual disability, cardiovascular anomalies, and infantile hypercalcemia.Objective and hypotheses: Majority of WBS cases occur sporadically, only five families with clinically confirmed WBS have been identified by molecular cytogenetic analysis. Here, we report on the three molecular cytogenetically confirmed familial WBS detected in a family with familial shor...

Background: Endocrine disruptors cause harmful effects to human body through various exposure routes. These chemicals mainly appear to interfere with the endocrine or hormone systems. Bisphenol A (BPA) is known as an endocrine disruptor with an estrogenic effect and it is supposed that it may have a role on development of precocious puberty (PP). Kisspeptin, a hypothalamic peptide, is a neuromodulator of GnRH and it has a big role on regulation of the onset of puberty.<p c...

Background: The CYP27B1 gene encodes 25-hydroxyvitamin D-1α-hydroxylase. Mutations of this gene cause a rare autosomal recessive disorder, vitamin D-dependent rickets type 1A.Objective and hypotheses: To investigate CYP27B1 mutations in children when rickets was associated with normal or high vitamin D levels and low or inappropriately normal calcitriol levels.Method: All coding exons and intron-exon boundari...

Background: Idiopathic hypogonadotropic hypogonadism (IHH) is characterised by failure of initiation or maintenance of puberty due to insufficient gonadotropin release, which is not associated with anosmia/hyposmia.Objective and hypotheses: The objective of this study was to determine the distribution of causative mutations in an hereditary form of IHH.Method: In this prospective collaborative study, families with more than one aff...