ESPE Abstracts

Background: The clinical diagnosis of partial androgen insensitivity syndrome (PAIS) should be systematically considered for all 46,XY newborns/infants with undervirilisation contrasting with normal/elevated plasma testosterone levels. Confirmation of PAIS is based on the identification of an androgen receptor (AR) gene mutation.Aim: This work was undertaken to determine whether the minor forms of undervirilisation such as isolated hypospadias, isolated ...

Background: Pubertal gynecomastia is observed in up to 65% of adolescent males. It is usually idiopathic and tends to regress within 1–2 years, although sometimes pubertal gynecomastia persists.Case presentation and methods: We investigated three adolescent males with isolated persistent pubertal gynecomastia: twin brothers and an unrelated adolescent boy. The twins (17 years) had normal male external genitalia. Biological testing showed normal test...

Background: X linked hypophosphatemic rickets (XLHR; OMIM 307800) is an X linked dominant disorder caused by mutations in the phosphate regulating neutral endopeptidase homolog X linked (PHEX) gene, which is located at Xp22.11.Objective: To clarify the underlying mechanism of a Brazilian family with hypophosphatemic rickets whose clinical manifestations were very broad among members of different generations.<p class=...

Background: The genetic etiology of non-syndromic HI remains unknown in over 20% of all cases, and over 50% of diazoxide-responsive cases. Non-coding variants in HK1 have been suggested to cause HI by linkage-analysis (Pinney et al., 2008). More recently, variants within a regulatory region of HK1 intron 2 were reported in 17 individuals with HI (Wakeling et al., 2022). These variants have been proposed to cause HI by disrup...

Objective: To describe a cohort with paediatric Graves disease followed between 2012 and 2022 at King’s College Hospital, London.Materials and Methods: Retrospective study of 36 patients treated with block and replace regimen of anti-thyroid drugs with a median (range) follow up of 4.25 (1.1-10.8) years. Demographic, clinical, biochemical and treatment data were collected from clinical records. Predictive factors f...

Introduction: Thyroid storm is an acute, life-threatening, emergency in children with thyrotoxicosis. It is extremely rare and could be an initial presentation in previously undiagnosed children. Thyroid storm with diabetes insipidus (DI) has been reported in adults, but no cases have been reported in children. We herein report a child with thyroid storm with transient central DI.Case Report: A 7-year-old girl, presented...

Introduction: In a large series, approximately 65% of boys with delayed puberty have constitutional delay in growth and puberty (CDGP). We report an adolescent male who presented with delayed puberty and managed as presumed CDGP. Unexpected pubertal progression while receiving treatment made us question the diagnosis of CDGP.Case-report: A 15-year-old African adolescent male presented with delayed growth and puberty. He ...

Introduction: Acromesomelic dysplasia, type Maroteaux (AMDM) is a rare autosomal recessive skeletal dysplasia, characterized by severe dwarfism and disproportionate shortening of the extremities, predominantly affecting middle and distal limb segments. It results from loss-of-function mutations affecting the C-type natriuretic peptide (CNP) receptor (NPR-B), a transmembrane guanylyl cyclase receptor encoded by the NPR2 gene. Resistance to growth hormo...

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...

Background: Mitchell Riley syndrome is a rare syndrome caused by mutations in the RFX6 gene, resulting in neonatal diabetes, intestinal atresia, pancreatic abnormalities, and biliary hypoplasia. RFX6 is a winged helix transcription factor that is expressed in the developing pancreas and in the gut endoderm. Previous eight case reports highlight poor outcomes with usually a fatal course in infancy.Case presentation: Twin 2 of a dichorion...