ESPE Abstracts

Background: Androgen Insensitivity syndrome (AIS), the most common cause of XY DSD, is an X-linked recessive allelic disorder caused by Androgen Receptor (AR) gene mutations. The complete form (CAIS) stems from abrogation of AR activity and is characterized by an external female phenotype and scarce pubic hair, as well as lack of Mullerian structures. Postnatal gonadotropin and testosterone levels are not increased, and the classical ‘Mini-puberty’...

Background: Following the intense debates and controversies regarding all forms of genital surgeries on minors, particularly the appropriateness of clitoral surgeries, assessing all outcomes of clitoromegaly management is imperative in directing future management.Methods: As part of a broader qualitative interview study involving 25 parents of patients with confirmed cases of clitoromegaly due to congenital adrenal hyper...

We present the case of a 11-years-old girl who came to our attention for a first critical episode lasting a few minutes, with spontaneous resolution, described as a generalized clonic tonic crisis, which occurred in full well-being. An electroencephalogram (EEG) was performed which showed focal epileptiform anomalies in the right temporal center that spread evoked by hyperpnea and eye closure and an EEG after sleep deprivation that showed an accentuation of the anomalies in ph...

Iodine is the most important element in thyroid function. Its deficiency and excess can cause hypothyroidism. Our location has been known as the iodine deficiency area for the last 20 years. In this study, we aimed to investigate thyroid dysfunction and assess its relationship with iodine levels in the neonatal period.Method: One hundred and seventy newborns were included in the study. Infants were selected from patients referred to for ...

Background: X-linked hypophosphatemia (XLH) is a rare genetic disorder of phosphate metabolism caused by mutations in the PHEX gene. XLH patients exhibit short stature and skeletal deformities, which are caused by defective bone mineralization site leading to increased porosity and decreased matrix stiffness. Bone mineral density measurements have been shown to be insensitive to the cumulative bone alterations. The velocity of the first arriving signal (vFAS) ...

Background: Self-limited delayed puberty (DP) is an extreme variant of normal pubertal timing and it often clusters in families. Although it is highly heritable and is the most common cause of delayed puberty, little is known about the genetic control. GnRH neuronal biology has been implicated as a key element in the pathogenesis of DP. By focusing on genes involved in GnRH neuron development, migration and function we may understand more about the genetic bas...

Background: The GH/IGF-I axis is involved in metabolic control and studies suggest that IGF-I deficiency and subsequent changes in IGF-I signaling in brown adipose tissue (BAT) modifies its thermogenic capacity. Food restriction reduces thermogenic capacity in BAT, while leptin stimulates thermogenesis through uncoupling protein 1 (UCP-1) induction. Leptin and IGF-I maintain important crosstalk in different tissues, but whether these two hormones interact to r...

Introduction: Estrogens play an essential role in reproduction and their peripheral action is mediated via nuclear alfa and beta receptors (ER) as well as membrane receptors. To date, only 3 females and 2 males from 3 families with a loss of function of ERa have been reported. The phenotype in these families was strongly suggestive of an estrogen resistance with an absence of a complete puberty, a delay in epiphyseal maturation with high estradiol levels and e...

Background: —Floating-Harbor syndrome(FHS) is a rare autosomal dominant genetic disorder associated with heterozygous mutations in SRCAP gene. The SRCAP protein activates the cAMP-response element binding protein-binding protein(CREBBP) gene that is involved in the regulation of cell growth and division.Objective: To report on long-term follow-up data of a boy with FHSMethods:...

There are several different techniques for assessing bone strength and fracture susceptibility in children namely; dual-energy x-ray absorptiometry (DXA), quantitative computed tomography (QCT), plain radiography and magnetic resonance imaging (MRI). The most readily available technique and recommended by the International Society of Clinical Densitometry (ISCD) is DXA. The advantage of DXA is that it is widely available, affords the child a low radiation dose and can assess f...