ESPE Abstracts

Introduction: Pituitary stem interruption syndrome (PSIS) is a congenital abnormality of the pituitary gland responsible for pituitary insufficiency. Its prevalence is unknown but about 1000 cases have been reported to date. It is characterized by a triad associating a very fine or interrupted pituitary stalk, an ectopic posthypophysis (PH) or absent and a hypoplasia of the anterior pituitary, visible on the MRI. The etiology of PSIS remains unknown.<p cla...

Background: 46,XX DSD (Disorder of Sex Development) includes individuals with ovotestes (ovotesticular DSD (OTDSD)) or testes (testicular DSD (TDSD)). Most individuals with 46,XX TDSD carry the SRY gene. Other known causes of TDSD/OTDSD include chromosomal rearrangements involving SOX9 or SOX3 and mutations of WNT4 and a WNT regulator, R-SPONDIN 1. However, our understanding of the molecular causes of TDSD and OTDSD remain incomplete.<p ...

Background: The ganglioneuroma (GN) is a benign tumor of the sympathetic nervous system following the sympathogonies that affects children and young adults. This is a rare tumor (7/1 000 000) which can be located along the sympathetic chain from the neck to the pelvis. In 20% of cases, the GN is localized in the adrenal.Objective and hypotheses: Report observations of eight patients with GN.Observations: Eight patients (two boys an...

Background: Achondroplasia is the most common cause of genetic dwarfism with a prevalence of 1/10 000 to 30 000 birth. It is a pathology of dominant inheritance linked to the mutation of the receptor gene growth factor on chromosome 4p16 fibroblastes FGFR3 responsable rhizomelic dwarfism and multiple complications likely to compromise the functional and vital prognosis of patients.Objective and hypotheses: Find the frequency of neurological complications...

Background: Mucopolysaccharidosis 6 (MPS6) (or Maroteaux–Lamy syndrome) is a rare genetic disease characterized by progressive systemic disease caused by a deficiency of N-acetylgalactosamine 4-sulfatase which causes an accumulation of dermatan sulfate (DS). It is due to mutations in the BRSA gene, located on chromosome 5. In severe cases, the accumulation of DS in the body cells occurs mainly in bones, joints, eyes, heart and brain. Its association with anterior...

Background: Ovarian sex differentiation network involves a panoply of interacting factors. Yet, no single sex-determining factor has been identified to be an equivalent of SRY or SOX9 in the testis. Recently, data suggested CBX2 as a pioneer regulator promoting testis development. In addition to its implication in ovary pathway differentiation which remains unclear.Objective and hypotheses: To deepen our understanding of the regulatory network that under...

Background: Diabetes mellitus (DM) is a chronic metabolic disorder requiring daily care to prevent both acute and chronic complications. Healthcare providers are challenged to manage the transition of adolescents from paediatric to adult diabetes services. Until recent date, this change of the medical team was lived by teenagers as a tearing and a discontinuity of the medical care.Objective and hypotheses: While centres providing structured integrated pa...

Background: Hyperthyroidism is considered to be rare in children; its clinical profile is different and the most cause is Grave’s disease (GD).Objective and hypotheses: To evaluate clinical features and evolution of childhood hyperthyroidism.Method: Longitudinal retrospective study of children diagnosed with hyperthyroidism in an endocrinology unit in a children hospital in Tunisia.Results: Seven cases o...

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: The investigation of patients with 46,XY DSD is often difficult, with no definitive diagnosis in more than 50% of cases investigated. We describe a new mutation of MAMLD1 in a patient with 46,XY DSD who also showed an alteration in the NR5A1 gene.Case report: A 5-year-old boy was referred to our clinic for DSD. He was born to non-consanguineous parents and was diagnosed with ambiguous genitalia at birth but had not been previously investigate...