ESPE Abstracts

Objective: Histones have important structural and regulatory roles mediating the dynamic packaging of DNA. The dysregulation of histone modification leads to overgrowth syndromes, such as Sotos and Weaver syndrome. Recently heterozygous variants in HIST1H1E, which encodes linker histone H 1.4 has been associated with Rahman Syndrome, which is characterized by a very rare complex phenotype consisting of overgrowth, dysmorphism, and intellectual disabil...

Background: Low-dose adrenocorticotropic hormone stimulation test (LDST) is widely used to assess patients for adrenal insufficiency. However, the predictive power of basal cortisol for the performance of LDST is not clear.Objective: To determine the appropriate basal serum cortisol cutt-off values that predict a positive or negative LDST.Design: A single-centre retrospective study...

Context: Biallelic RNPC3 variants have been reported in a few patients with growth hormone deficiency, either in isolation or in association with central hypothyroidism, congenital cataract, neuropathy, developmental delay/intellectual deficiency, hypogonadism and pituitary hypoplasia.Objective: To describe a new case with syndromic congenital hypopituitarism and diffuse brain atrophy due to RNPC3 mutations and to compar...

Background: Bone morphogenetic protein 15 (BMP15), is an oocyte-specific growth factor, that regulates folliculogenesis and ovulation rate. It is encoded by the BMP15 gene (chromosome Xp11.2), in which heterozygous missense variants in the precursor or mature peptide cause primary ovarian insufficiency (POI) with the dominant-negative effect. BMP15-related ovarian dysgenesis (OD) constitutes 1.5-2.0% of POI. The underlying mechanism ...

Objectives: Familial glucocorticoid deficiency (FGD) is a rare autosomal recessive disorder characterized with isolated glucocorticoid deficiency. Melanocortin receptor 2 (MC2R) mediates the functions of adrenocorticotropic hormone (ACTH) in the adrenal cortex. MC2R accessory protein (MRAP), a transmembrane protein, involves in the trafficking of MC2R to the cell surface. Mutations in MC2R and MRAP genes cause FGD type 1 and 2. Herein, we ev...

Objectives: Proopiomelanocortin (POMC) is the polypeptide precursor of several peptides including adrenocorticotropic hormone (ACTH), melanocyte stimulating hormone (MSH) and β-endorphin. POMC deficiency is a very rare disease characterized by adrenal insufficiency, early-onset obesity, and pigmentation abnormalities. Here we describe an 18 month old boy with central adrenal insufficiency, hypothyroidism, obesity and fair skin. Genetic analysis revealed a homozygous p.G99...

Background: Anti-Mullerian hormone (AMH), secreted by immature Sertoli cells, provokes the regression of male fetal Mullerian ducts. Loss of function mutations in genes coding AMH (AMH) or its receptor (AMHRII) lead to the persistent Mullerian duct syndrome (PMDS) which is characterized by the presence of uterus, fallopian tubes, cervix and vagina in otherwise normally virilized 46,XY males. Typical clinical features along with plasma AMH levels and genotypin...

Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21OHD) is caused by mutations in the CYP21A2 gene. Steroid 21-hydroxylase deficiency results in impaired synthesis of mineralcorticoids and glucocorticoids (GC), plus androgen excess. Hormonal imbalances in 21OHD are postulated to result in systemic transcriptomic and metabolomic alterations. Such perturbations are likely to be underlying co-morbidities, which are increasingly observed in individua...

Itroduction: Thiamine responsive anemia (TRMA) known as Rogers syndrome; is an early-onset, autosomal recessive disorder characterized by diabetes mellitus, megaloblastic anemia and sensorineural deafness. Diabetes in this condition is well described in infancy but has only very rarely been reported in association with neonatal diabetes.Case: 3-months old male patient with neonatal diabetes was admitted to our outpatient clinic because of uncontrolled hy...

Background: Proopiomelanocortin (POMC) deficiency is characterized by early-onset obesity, adrenal failure, red hair and pale skin. The first genetic mutation in the POMC gene was demonstrated in 1998. This disorder is rare, but has increased our insight into the important role of the leptin-melanocortin pathway in energy balance. POMC deficiency causes obesity due to the inadequate production of alpha and beta MSH from POMC, which normally activate the melanocortin 3 receptor...