ESPE Abstracts

Background: A one-month girl was referred to our unit for hypocalcemia. She was the first child of healthy non-consanguineous parents. Her family history was unremarkable except a miscarriage in the mother and oligoasthenospermia in the father that justified a medically assisted reproduction. She was born eutrophic at term after a pregnancy marked by a moderate gestational diabetes. On day 3, a routine neonatal screening revealed a severe asymptomatic hypocalcemia (total calci...

Background: Vitamin D dependent rickets type 1A (VDDR1A) is a rare disease caused by CYP27B1 mutations which encodes vitamin D 1α-hydoxylase.Objective and hypotheses: Vitamin D dependent rickets type 1A features of three Chinese cases with CYP27B1 mutations and report the experience of medication for severe hypocalcaemia.Method: Summarise their clinical features analyse the CYP27B1 and vitamin D receptor (VDDR) mutations.<...

Introduction: Subcutaneous fat necrosis of the newborn (SCFN) is a self-limiting panniculitis which can develop in the first weeks of life. The disorder is characterized by firm, red or purple subcutaneous nodules and plaques on the trunk, buttocks, cheeks, and extremities and is associated with perinatal stress. SCFN may lead to hypoglycemia, anemia, thrombocytopenia, hypertriglyceridemia and hypercalcemia. The proposed mechanism for the hypercalcemia is extr...

The SRD5A2 gene (MIM607306) codes for the type 2 5α-reductase enzyme that catalyzes the conversion of testosterone to its active metabolite, dihydrotestosterone (DHT), essential for the development of the male external genitalia. Pathogenic variants in homozygosis or compound heterozygosis may be responsible for a 46XY Disorder of Sex Development.Case: A 5-year-old girl who was referred to us after the mother noticed lumps on both ...

Hypocalcemia is a common metabolic problem and a recognized cause of seizures in neonates and infancy. Breastfed infants born to mothers who are vitamin D and or calcium deficient are at risk of developing vitamin D deficiency and hypocalcemia.Case report: We present two infants (two weeks old boy and a 9-month-old girl) with hypocalcemia caused by vitamin D deficiency admitted to our pediatric emergency department for seizures and tetan...

Introduction: There is still controversy about the levels of bone turnover markers at type 1 diabetes (T1D) onset and their dynamics at follow-up. Bonfanti et al. did not find any differences at onset, while few months afterwards beta cross laps level was significantly lower. Pater et al. found lower levels of osteocalcin and Log beta cross laps at onset which normalized after 3 and 12 months. Possible mechanisms are metabolic acidosis, decre...

Background: Hereditary hypophosphatemic rickets with hypercalciuria(HHRH; OMIM: 241530) is a rare autosomal recessive disorder,which is the result of loss-of-function mutations in the sodium-phosphate-cotransporter NPT2c.This disorder is characterized by renal phosphate(Pi) wasting,hypercalciuria,increased 1,25 (OH)2-D levels and decreased parathormone(PTH) levels.Here we report the clinical features of two siblings with HHRH,confirmed with molecula...

Background: X-linked Adrenal Hypoplasia Congenita (AHC) is a very rare hereditary cause of pediatric primary adrenal insufficiency (PAI). Congenital adrenal hyperplasia (CAH) due to 21-hydrolase deficiency(21OHD) is most common hereditary cause of pediatric PAI with autodominal recessive inheritance.Objective: To present a Chinese boy with PAI with the pathogenic mutation of NROB1 and Double mutants in cis of CYP21A2 gen...

Type 1 diabetes (T1D) hits about 1:300 with rising incidence affecting increasingly younger children. Population screening at ages 2-6yrs with T1D associated autoantibodies (T1Ab) has been recently proven sensitive. While potential treatments to prevent or delay T1D are currently in development, a population based cost-effective preventive strategy is still lacking. Hence, 2000IU cholecalciferol daily in a large birth cohort study published in 2001 reduced by 80% the risk of T...

Primary adrenal insufficiency (PAI) is a rare, potentially life-threatening, condition due to abnormalities of steroid biosynthesis or of adrenal gland development and responsiveness. PAI is characterized by impaired secretion of glucocorticoids and can be accompanied by mineralocorticoid and adrenal androgens deficiency or excess, depending on the underlying cause. In adults, the most common etiology is represented by autoimmunity. In contrast, the disease in children is more...