ESPE Abstracts

The experiences of older adults with Variations in Sex Characteristics (VSC or Differences/Disorders in Sex Development/DSD) are well documented. However there has been a gap in the literature with respect to representing the voices of younger people. This qualitative research study has been conducted in collaboration with Intersex Trust Aotearoa New Zealand. Ten young people with VSC were recruited via health professionals, intersex advocates, support groups and social media ...

Background: Androgen insensitivity syndrome (AIS) is a rare disease due to end organ resistance of androgens. AIS is commonly caused by the mutations of androgen receptor (AR) gene located on chromosome Xq11-12. The mode of inheritance is hemizygous, where males get severely affected and females remain as carriers.Objective and hypotheses: Here, we describe the Phenotype–Genotype correlation and gender identity of pubertal and post pubertal...

Objective and hypotheses: We analysed the prevalence of transient hypothyroidism in a cohort of children affected by CH with eutopic thyroid after Levothyroxine discontinuation.Method: 77 newborns (36 females, 41 males) affected by CH with eutopic thyroid from 1999 to 2011 were enrolled. The confirmation diagnosis of CH after screening was made within the first 15 days of life by assessing TSH value (mean 74.4±82.2 μU/ml n.v 0.5–4.2) and f...

Background: Prenatal diagnosis (PND) via amniocentesis or chorionic villus sampling may result in the identification of a sex chromosome abnormality, often as an incidental finding.Objective and hypotheses: The aims of this study were to ascertain the prevalence of sex chromosome abnormalities detected by prenatal diagnosis in Scotland and to determine the outcomes for these cases.Method: A retrospective review of all prenatal kary...

Background: Triple A syndrome (alacrima, achalasia, adrenal failure, progressive neurodegenerative disease) is caused by mutations in the AAAS gene which encodes the protein ALADIN. Osteoporosis seems to be an overlooked symptom in triple A syndrome.Objective and hypotheses: To evaluate etiology of osteoporosis in six male and four female patients with triple A syndrome.Method: X-ray, dual X-absorptiometry (DXA) of the lum...

Background: Congenital primary hypothyreoidism occurs in about 1 of 3 600 life births and is usually detected with newborn screening. Early levothyroxine treatment is the prerequisite for normal psychomotor development of affected children. However, patients suffering from congenital central hypothyroidism are missed by the screening procedure, which may lead to delayed diagnosis and therapy. In very rare cases central hypothyroidism is caused by isolated TSH deficiency due to...

We report on a nearly 4-year-old girl who presented to the emergency room of our paediatric clinic with high fever and poor general condition, swelling of the neck and swallowing difficulties. Laboratory chemistry showed a marked hyperthyroid metabolic state, so that initially a thyrotoxic crisis in Graves' disease was considered (TSH 0.03 mU/L (-), fT4 28.10 pmol/l (+)). Therefore, a short-term therapy with thiamazole was given. The thyroid autoantibodies were negative. ...

Introduction: Transgender people and the gender transition process requires a series of processes with psychosocial, legal and physical implications. In our community, with the establishment of the care plan for trans youth, reference units were created in 2015. We had an interest to analyze the different epidemiological variables and the type of care demand of this population cared for in our unit.Methodology: An observ...

Background: MKNR3 is a paternally expressed gene whose loss-of-function mutations cause Central precocious puberty (CPP). The precise molecular disruption produced by MKRN3 mutations remains unclear albeit protein structure suggests MKRN3 could play a role in proteasome ubiquitination. Circulating MKRN3 levels has been negatively associated to LH peak, estradiol and kisspeptin in idiopathic CPP and healthy controls. However, no literature data is available for...

A 5-year-old Moroccan patient comes to our attention due to impaired gait with pain in the lower limbs, easy fatigue and poor gain in weight and stature. In the previous months he had some episodes of abdominal pain. During our first physical examination he was pale, with diffuse muscular hypotrophy, uncertain gait with an enlarged base, dubious hypertrophy of the calves and Gowers' sign. No varus / valgus of the lower limbs. Symmetrical and normo-evocable osteotendinous ...