ESPE Abstracts

Introduction: Classic congenital adrenal hyperplasia (CAH) caused by 21-hydroxylase deficiency results in impaired synthesis of gluco- and often also of mineralocorticoids. Early treatment with glucocorticoids and mineralocorticoids prevents life-threatening crises. In some centres, additional salt is prescribed in the first year. However, until now the use of salt is controversial and not proved to result in better outcome in studies.<s...

Background: Leydig Cell Hypoplasia (LCH) is a very rare autosomal recessive condition that is manifested by a wide spectrum of phenotypes, ranging from completely female external genitalia to male genitalia. Long-term outcome in these patients is unclear.Objectives: To assess sex assignment, clinical characteristics and long-term outcome of 46,XY LCH cases.Patients and Methods: Thr...

Background: The ‘External Masculinization Score’ (EMS) is an objective method of scoring undervirilized genitalia in infants but may require further adaptation to capture the appearance of the genitalia more comprehensively across the phenotypic spectrum.Objective: To develop and validate a non-binary, standardized score that describes the range of appearance of external genitalia.Method: The external genitalia score (EGS...

Background: Bi-allelic GHR mutations are classically responsible for Laron syndrome, a severe growth hormone (GH) resistance syndrome. A few GHR missense mutations have also been implicated in mild GH resistance or idiopathic short stature. IGFALS mutations are responsible for recessive or semi-dominant short stature with normal GH provocative test contrasting with extremely low IGF-I levels.Objective and hypotheses: To assess the contribution of GHR and...

Background: 45,X/46,XY mosaicism is a rare karyotype with a broad phenotypic variation. In patients with a male or predominantly male phenotype, impaired genital development and statural growth have been observed, but little is known about long-term outcomes. Larger multicenter studies are needed.Objective and hypotheses: The aim of this study is to investigate long-term outcomes, namely gonadal function, growth and co-morbidities, in a larger group of m...

Background: Following the 2010 CAH consensus, the need for genetic confirmation of diagnosis remains uncertain and variation in practice is unclear.Methods: This variation was assessed by using the International CAH(I-CAH) Registry which was developed using the same platform as the I-DSD Registry.Results: After the development of the I-CAH Registry in October 2014, the rate of addition of CAH cases increased from 2/month to 14/mont...

Background: Twenty-three national healthcare networks for rare diseases were identified in 2014 as part of the French scheme on rare diseases. The rare endocrine disease national healthcare network FIRENDO (www.firendo.fr) includes six centers of reference with complementary fields of expertise certified between 2005 and 2006, 30 centers of competence covering all French regions, 18 research and 37 diagnostic laboratories, 5 national learned...

Background: Partial Androgen insensitivity syndrome (PAIS) is a rare condition which is associated with a variable phenotype. To date, there are limited data reporting long-term endocrine outcome for this condition.Aims: To determine the outcomes and clinical characteristics for 46, XY males with PAIS, using information from the International DSD (I-DSD) Registry and its clinical users.Methods: The I-DSD Registry and its users were...

Background: It is well known that boys are heavier than girls at birth. Causes of this difference are thought to originate from the Y chromosome and as a result of androgen action. Although some studies showed that sex dimorphism in size at birth is dependent of fetal androgens, one study reported that it is not generated by action of androgens.Objective and hypotheses: To determine birth weight (BW) of children in different aetiologies of disorder of se...

Background: Hetero- and homozygous mutations in Steroidogenic Factor1 (SF1, NR5A1) cause 46,XY and 46,XX disorders of sex development (DSD), azoospermia, and primary ovarian insufficiency. NR5A1 is also involved in embryonic spleen development, by transactivation of T-cell Leukemia Homeobox 1 (TLX1). Hypo- or asplenism have occasionally been observed in DSD patients with NR5A1 mutations.<p clas...