ESPE Abstracts

Background: An early diagnosis and treatment based on neonatal screening offers a normal cognitive development in patients affected with congenital hypothyroidism (CH). However, several studies within cohorts of young adults have shown a still existing difference compared to control groups of up to eight IQ points. Moreover it has been claimed recently that a high L-T4 dose with subsequent episodes of overtreatment results in less favourable IQ outcom...

Background: NR5A1 mutations in 46,XY patients lead to various degrees of disorders of sex development (DSD). Familial cases have been described where the mother (heterozygous for the mutation) presented primary ovarian failure. Little is known about testicular function at puberty but most patients have biological markers of gonadal dysgenesis, raising fears of infertility.Objective and hypotheses: To describe a familial form of DSD due to NR5A1 mutation ...

Background: OTX2 is expressed in the human brain and plays a key role in the eye development. OTX2 mutations are reported in patients with ano/microphtalmia, optic nerve or optic chiasm hypoplasia, ocular coloboma and retinal dystrophies, associated in some cases with brain or pituitary abnormalities.Objective and hypotheses: Most of OTX2 mutations are nonsense or frameshift, more rarely missense mutations occur.Method: We...

Background: Idiopathic ketotic hypoglycaemia (IKH) is an exclusion diagnosis and the most common cause of hypoglycaemia in childhood. Glycogen Storage disease (GSD) type IX comprises one quarter of all GSD’s. GSDIXa, encoded by PHKA2, is the most frequent subtype.Objective: To investigate whether IKH may be undiagnosed GSDIXa.Methods: Hospital file review and next generation sequence 29 gene GSD-panel.<p class="ab...

Objectives: To describe clinical, hormonal and genetic findings of an under-virilized infant male, 13 month old, of afghani origin, presented at the emergency department with salt-wasting adrenal crisis.Case report: The patient, a 13 month old male infant, presented at the emergency department with complaints of vomiting and fever. Physical examination was significant for severe dehydration along with perineal hypospadia...

Background: Carnitine deficiency (CD) has been reported in children at time of type 1 diabetes (T1D) diagnosis. By impairing free fatty acid ß-oxidation in liver, muscle mass and pancreatic ß cells, CD might impair glucose homeostasis and residual insulin secretion. We postulate that reversed of these FAO defects may help regenerate a healthier ß cell mass and increased the diabetes honeymoon duration.Objective: Evaluate the effects of car...

Background: IGFALS deficiency is a rare cause of GH insensitivity (GHI). We report a German girl with short stature who was born as 2nd child at 40 weeks of gestation. Her Caucasian parents were unrelated and healthy (target height 168 cm, SDS 0.2). She was born appropriately sized for gestational age (49 cm, SDS -1.2; 2950 g, SDS-1.2). Height (104.8 cm; SDS -2.94) and height velocity (5.1 cm / year; SDS -1.67) were reduced at the age of 6 years.</p...

Background: —Floating-Harbor syndrome(FHS) is a rare autosomal dominant genetic disorder associated with heterozygous mutations in SRCAP gene. The SRCAP protein activates the cAMP-response element binding protein-binding protein(CREBBP) gene that is involved in the regulation of cell growth and division.Objective: To report on long-term follow-up data of a boy with FHSMethods:...

Introduction and Aims: Autosomal dominant hypocalcemia or type V Bartter syndrome is characterized by hypocalcemia, low parathyroid hormone (PTH), and calciuria, which marks its prognosis due to the risk of nephrocalcinosis. It is caused by activating mutations in the calcium-sensing receptor (CASR) gene (3q21.1), which is expressed in the parathyroid and renal tubules, causing salt and potassium loss, due to the inhibition of the ROMK and NKCC2 channels. We s...

Background/Aim: Currently, the minimum of the GH peak (pGH) to GH provocative stimuli, including the glucagon stimulation test (GST), has been arbitrary set in children at 7 µg/L, irrespective of gender and age. Several doses (fixed or per bodyweight) and ways of administration (IM or SC) of glucagon are being used in daily practice. This retrospective study explores the influence of gender, age, and adiposity on the pGH after a maximally effective glucag...