ESPE Abstracts

Introduction: Limited, small-scale studies have revealed that men with proximal hypospadias (HS) or with other signs of undermasculinisation (i.e. complex HS) are at risk of reduced fertility and/or impaired testicular hormone synthesis. However, the extent of this phenomenon and if milder forms of isolated HS are also affected, remains unclear.Aims: To explore reproductive hormones and semen quality of young men (16-21 ...

Introduction: Mutations in the thyroid hormone (TH) transporter MCT8 result in MCT8 deficiency, which is characterized by severe intellectual and motor disability and high serum T3 concentrations inducing thyrotoxicity in peripheral tissues. At present, no effective treatment is available, although preclinical studies suggest that the T3 analog Triac is a promising candidate to i) normalize serum T3 levels and thus alleviate the thyrotoxicosis and ii) restore TH signaling in t...

Background: P450 oxidoreductase (POR) mutations can present with disordered sexual development (46,XX virilisation as well as 46,XY under-masculinisation), perturbed steroidogenesis and mild to severe skeletal malformations. As POR is an obligate electron donating cofactor to many P450s, and as this interaction may vary from partner to partner, the phenotypic spectrum of PORD is extremely broad. Therefore, to characterize novel POR mutations, specific testing is required.<...

Here, we report on a female adolescent with overweight and a very high DHEAS serum level. The hypothesis that the origin of DHEAS excess was the presence of either an ovarian or a suprarenal DHEAS-producing tumor was not confirmed. Sonographic and MRT investigations did not support its presence. In addition, effective dexamethasone suppression of DHEA and DHEAS excluded this diagnosis. Steroid sulfatase (STS) hydrolyses alkyl and aryl steroid sulfates to their unconjugated for...

Background: Disorders of androgen synthesis are rare causes of 46,XY disorder of sex development (DSD) that present with undervirilization or sex reversal.Objective: A history of a female adolescent with 46,XY DSD, initially suspected to have complete androgen insensitivity is presented.Methods: Patient history was obtained from the medical records. Urinary steroid profile was preformed using gas chromatography/mass spectrometry. T...

Background: We recently demonstrated that both ritonavir-boosted lopinavir (LPV/r) and lamivudine (3TC, a nucleoside analogue) given to breastfed infants can reduce the risk of post natal HIV transmission (ANRS 12174 trial; Nagot, Lancet 2016). In another setting we previously showed the occurrence of adrenal dysfunction in newborn perinatally exposed to LPV/r leading to acute adrenal insufficiency in premature babies (Simon, JAMA 2011).Objective and hyp...

Bile acids (BA) are C24 steroids synthesized from cholesterol in liver. Originally, they were mainly considered to function as emulsifiers supporting resorption of lipophilic food compounds and excretion of metabolic products. Recently, their additional biological and endocrine functions in the regulation of metabolism have aroused interest of researchers. In contrast to BA in blood, it is surprising that hardly any data exist on BA in the most accessible human biof...

Objective: The treatment of children with classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency (CAH) is a challenge since both undertreatment and overtreatment with glucocorticoids can affect growth. Numerous reports in the literature have shown that the linear growth of individuals with CAH is affected and adult height is compromised. However, most of these data were obtained in the era before CAH newborn screening....

Nicotinamide nucleotide transhydrogenase (NNT) is expressed in the heart, thyroid, and testicles, where it maintains the balance of reactive oxygen species in the mitochondria. It is linked, by an insufficiently described mechanism, to primary adrenal insufficiency (PAI) with or without mineralocorticoid insufficiency and several extra-adrenal manifestations (i.e. gonadal adrenal rest tumors, cardiomyopathy, hypothyroidism, and precocious puberty). A comprehensive and chronolo...

Introduction: Childhood obesity is associated with alterations in hypothalamus-pituitary-adrenal axis activity. We tested the hypothesis that multiple alterations in the metabolism of glucocorticoids are required for the development of hypertension in children who become overweight.Methods: Timed spot urine for targeted gas chromatography-mass spectrometry steroid metabolome analysis was collected from (1) overweight/hyp...