Sophie Stoppa-Vaucher

University of Lausanne | UNIL · Department of Medical and Surgical Pediatrics (DMCP)

Introduction Turner syndrome association with multi-organ system comorbidities highlights the need for effective implementation of follow-up guidelines. We aimed to assess the adequacy of care with international guidelines published in 2007 and 2017 and to describe the phenotype of patients. Methods In this multicenter retrospective descriptive co...

Polycystic ovary syndrome (PCOS) is frequent during adolescence (prevalence ≈ 6 %), and the prevalence increases in obese or type 1 diabetic (T1D) adolescent girls. During puberty, PCOS diagnosis is difficult because of the overlap with some pubertal physiologic signs. The 2017 international consortium suggests two required diagnostic criteria: per...

Congenital hyperinsulinism (CHI) is a rare glucose metabolism disorder characterized by unregulated secretion of insulin leading to hyperinsulinemic hypoglycemia (HH). Most cases are caused by mutations in the KATP-channel genes ABCC8 and KCNJ11. We report two patients with severe HH from the first day of life. Patient 1 developed midgut volvulus a...

Background Type 1 diabetes mellitus (T1DM) in children and adolescents is associated with significant cardiovascular morbidity and mortality. Early detection of vascular dysfunction is key to patient management yet current assessment techniques are invasive and not suitable for pediatric patient populations. A novel approach using isometric handgri...

Mutations in the CHD7 gene, encoding for the chromodomain helicase DNA-binding protein 7, are found in approximately 60% of individuals with CHARGE syndrome (coloboma, heart defects, choanal atresia, retarded growth and development, genital hypoplasia, ear abnormalities and/or hearing loss). Herein, we present a clinical case of a 14-year-old male...

Background The study aimed to assess accuracy, satisfaction and usability of a flash glucose monitoring system (FGM) in children and adolescents with type 1 diabetes mellitus (T1DM) attending a diabetes summer camp. Methods Sixty‐six children and adolescents with T1DM aged 6‐17 years participating in a 7‐day medically‐supervised summer camp were e...

Background/aims: Controversies still exist regarding the evaluation of growth hormone deficiency (GHD) in childhood at the end of growth. The aim of this study was to describe the natural history of GHD in a pediatric cohort. Methods: This is a retrospective study of a cohort of pediatric patients with GHD. Cases of acquired GHD were excluded. U...

Type 1 diabetes (T1D) is rarely a component of primary immune dysregulation disorders. We report two cases in which T1D was associated with thrombocytopenia. The first patient, a 13-year-old boy, presented with immune thrombocytopenia (ITP), thyroiditis, and, 3 wk later, T1D. Because of severe thrombocytopenia resistant to immunoglobulins, high-dos...

Children born premature and/or small for gestational age (SGA) are at risk of growth and metabolic abnormalities. Catch-up growth occurs usually before the age of 2. In the absence of sufficient catch up growth, growth hormone (GH) treatment should be evaluated under certain conditions. Children who were born premature and/or SGA are at higher risk...

Adipose tissue may release mediators that induce a chronic inflammatory state and alterations in coagulation, which contribute to insulin resistance, atherosclerosis, and thrombosis. We investigated whether inflammatory and/or prothrombotic states exist in obese children and assessed their interrelationship. Sixty-one subjects were recruited, aged...

Thyroid ectopy results from the failure of the thyroid precursor cells to migrate from the primordial pharynx to the anterior part of the neck. Most ectopic thyroids are revealed by congenital hypothyroidism and present as a single round mass at the base of the tongue, with no other thyroid tissue. However, some cases have dual ectopy, with part of...

Stoppa-Vaucher S, Ayabe T, Paquette J, Patey N, Francoeur D, Vuissoz J-M, Deladoëy J, Samuels ME, Ogata T, Deal CL. 46, XY gonadal dysgenesis: new SRY point mutation in two siblings with paternal germ line mosaicism. Familial recurrence risks are poorly understood in cases of de novo mutations. In the event of parental germ line mosaicism, recurren...

We report the case of a newborn boy who presented with micropenis and bilateral cryptorchidism at birth. The determination of AMH level strongly suggested a diagnosis of bilateral anorchia at 3 days of age whereas FSH and LH levels at the same time were not informative. The rapidity and reliability of results can reduce parental anxiety and avoid m...

The scant data on ethnic differences in the prevalence of congenital hypothyroidism (CH) have generally not taken etiology of CH into account. Our hypothesis is that the prevalence of CH due to thyroid dysgenesis (TD) varies by ethnicity. This case-control study included all patients with CH due to TD (a condition of unknown origin) or to dyshormon...

Hypothyroidism was documented by cordocentesis at 19 weeks in a fetus with non-immune goiter. Intra-amniotic thyroxine was injected at 25 weeks when amniotic fluid volume increased. Psychomotor outcome was normal. We argue that intra-amniotic thyroxine should not be used to treat the hypothyroidism but only to correct the development of polyhydramn...