ESPE Abstracts

At present no European recommendations for the management of pediatric thyroid nodules and differentiated thyroid carcinoma (DTC) exist. Differences in clinical, molecular, and pathological characteristics between pediatric and adult DTC emphasize the need for specific recommendations for the pediatric population. An expert panel was instituted by the executive committee of the European Thyroid Association (ETA) including an international community of experts from a variety of...

Background: Transgirls (female-identifying adolescents assigned male at birth) can be treated with GnRH (gonadotropin releasing hormone analogs) followed by the addition of estrogens.Recently in a small cohort of 25 transgirls their average final height was reported to be +1.9 SDS (standard deviation score) calculated for adult Dutch females.High dosage estrogens can be used to stimulate bone maturation, thereb...

Background: Treatment for growth disorders requires daily injections of recombinant human growth hormone (r-hGH) over multiple years, and automated devices may help in this regard. The ability to adjust injection device settings, which are pre-set as default unless changed by healthcare professionals, may improve patient comfort and needle anxiety and thereby improve adherence.Aim: To study the association between inject...

Background: Pubertal growth and adult height are important to many transgender adolescents undergoing medical transition. However, few studies are available on the impact of puberty suppression (PS) with GnRH analogues (GnRHa) and hormonal therapy (HT) with testosterone on growth. In this longitudinal cohort study, we investigated the effect of PS and HT on growth and adult height in transgender boys.Methods: A total of ...

Purpose: Transgender adolescents are treated with gonadotropin-releasing hormone analogues (GnRHa), followed by the addition of gender-affirming hormones. Since during puberty the body reaches maturation, concerns have been risen that the treatment may have negative outcome later in life. The aim of this study is to determine whether treatment with GnRHa and subsequent addition of hormones results in a more atherogenic profile than peers at the age of 22.<p class="abstext"...

Background: Heterozygous GNAS inactivating mutations cause pseudohypoparathyroidism type Ia (PHP-Ia) when maternally inherited and pseudopseudohypoparathyroidism (PPHP)/progressive osseous heteroplasia when paternally inherited. Mutations on the paternal, but not the maternal, GNAS allele are associated with intrauterine growth retardation (IUGR). Moreover, birth weights were lower with paternal GNAS mutations affecting exons 2–13 (including XL and Gαs) than with exo...

Background: GNAS gene is a complex imprinted locus, resulting in the expression of at least four transcripts (XL, NESP55, A/B and Gsα) characterized by their specific exon 1 and common exons 2-13. While Gαs is biallelically expressed in most tissues, XL is only expressed from the paternal allele. Maternally inherited, loss-of-function mutations affecting those GNAS exons that ...

Background: Congenital adrenal insufficiency represents a life-threatening condition. Among its multiples causes, mutation of NNT1 is the most recently discovered. We had the opportunity to observe one case. NNT1 is a gene coding for a membrane protein which protects cells from oxidative stress.Objective and hypotheses: As few cases have been published until now, we describe a new case.Results: In a consanguineous (second grade) Al...

Background: 46,XY patients with SF-1 mutations have sex reversal or ambiguous genitalia (with or adrenal insufficiency) due to dysgenetic testis. In most cases, a severe defect in testosterone (T) production has been found. We described here 3 cases showing the variability in T production.Results: Case 1: A was seen at the age of 17 years for primary amenorrhea. Tanner stage was B2PH3. External genitalia were normal. FSH was 55 IU/l, LH 17 IU/l,...

Background: Determination of steroids in amniotic fluid (AF; Forest et al., J Clin Endocrinol Metab, 1980) has been essentially used in the three past decades for the prenatal diagnosis of 21-OH deficiency. With the recent advances of ultrasound technology (US) and the widespread use of amniocentesis, prenatal diagnosis of DSD appears more common especially if a mismatch between karyotype and external genitalia detected by US occurs. An accurate and specific ...