ESPE Abstracts

Micropenis is defined as a penile length less than 2.5 SD below the mean value for a given age (eg, <2.5 cm at term). Nowadays, it should be also diagnosed in utero by sonography. The incidence of micropenis has been reported as 1.5/10.000 male infants in Usa, 5/1.442 in France and 18/2710 in Brazil, suggesting geographical differences or different assessment. Micropenis represents a clinical sign, that may be part of various clinical conditions, such as hypogonad...

Background:Short stature may be due to various pathological conditions or may be idiopathic. SHOX (Short Stature Homeobox on X chromosome) gene is involved in the regulation of skeletal growth and is a main cause of short stature on monogenic basis. The frequency of this condition in children with idiopathic short stature (ISS) was reported to range from 2 to 17%. The phenotypic spectrum is heterogeneous, varying from Léri-Weill dyschondrosteosis (LWD) ...

Introduction and objective: Gonadectomy was carried out for a long time after the diagnosis of complete androgen insensitivity syndrome (CAIS). It is now recommended to leave the gonads in situ in order to guarantee endogenous hormone production. It is unclear how best to clinically monitor testicular function. The aim of the study was to investigate whether inhibin B can be used as a future follow-up parameter to screen for gonadal function in CAIS p...

Background: cryptorchidism is associated with the high risk of infertility. In some cases it may be the one of the first symptom of congenital hypogonadism. The period of 0 – 6 month of life is a short window for postnatal testicular maturation and the diagnostic of reproductive disorders.Objective: to evaluate the functional condition of pituitary and gonads in mini-puberty boys with bilateral cryptorchidism.<p...

Background: The period of transitory postnatal activation of the hypothalamo-pitutary-gonadal axis (mini-puberty) plays an important role in the testicular maturation.Objective and hypotheses: To evaluate the functional condition of the gonads in 1–3 months boys with cryptorchidism.Method: 40 boys ages 1–3 months with cryptorchidism were examined: group 1–30 boys with unilateral inguinal retention testis and group 2&...

Background: SIDM is not a common complication of high-dose glucocorticoid therapy (HD-GC) in pediatric practice. There are no clear generally accepted approaches to SIDM treatment. In 10 cases, we present the identified patterns of predictors, course, features of the treatment of SIDM in children and adolescents.Methods: 10 case histories of children with SIDM were analyzed. 4 boys, 6 girls, age 8-17.5 years, median 15 y...

Background: Human HSD11B2 metabolizes active cortisol into cortisone and protects the mineralocorticoid receptor from glucocorticoid occupancy. Loss of function mutations in HSD11B2 gene cause a rare autosomal recessive disorder, apparent mineralocorticoid excess, resulting in low-renin hypertension and hypokalemia.Objective: We present 2 children with apparent mineralocorticoid excess. Case 1, a boy presenting at 11 yea...

Background: Pathogenic germline DICER1 variants cause a hereditary cancer predisposition syndrome with a variety of manifestation. In addition to conferring increased cancer risks for pleuropulmonary blastoma (PPB) and ovarian sex cord-stromal tumors, particularly Sertoli–Leydig cell tumor, individuals with pathogenic germline DICER1 variants could also have lung cysts, cystic nephroma, multinodular goiter, ciliary body medulloepithelioma, genitourinary embryonal rhabdomy...

Background: Disorders/differences of sex development (DSD) differ from other rare conditions which are often accompanied by significant morbidity and mortality. With limited exceptions, DSD are not life-threatening and do not predict a given level of physical health or health-related quality of life across the lifespan. The birth of a child with DSD is anxiety-provoking. Stressors include weathering drawn-out diagnostic testing, difficulty absorbing complex medical information...

Dyslipidemia is one of the major risk factors for cardiovascular disease in diabetes mellitus. The characteristic features of diabetic dyslipidemia in adults are a high plasma triglyceride concentration, low HDL cholesterol concentration and increased LDL cholesterol. Dyslipidaemia in children with type 1 diabetes mellitus (T1D) have been little studied (P. Lozano et al., 2016; J. D. Schofield et al.,2016; M. Kinoshita et al., 2018; C.Elkins et al., 2019). DECODE studies (Diab...