IMPE Abstracts

Introduction: Primary hyperparathyroidism (PHPT 1) is a rare entity in childhood and adolescence, most cases are diagnosed in patients over 45 years of age, frequently in females, in the pediatric age, mainly affects males, with the exception of neonates in whom there are no differences between the sexes. Most cases occur in children older than 10 years, especially in peripubertal age, and only 5% of all hyperparathyroidism in childhood are diagnosed between 3...

Background: Hypophosphatemic rickets can occur due to multitude of conditions. In a child with Ewings sarcoma treated with chemotherapy we need to consider Fanconi syndrome, but FGF23 induced oncogenic hypophosphatemic rickets should also be kept in mind. Proximal tubular dysfunction is a well known cause following treatment with ifosfamide.Presenting problem: 3 years and 4 months old girl, a diagnosed patient with Ewing...

Introduction: Familial hypomagnesemia with secondary hypocalcemia (HSH) is a rare autosomal recessive disorder of magnesium homeostasis that presents with refractory seizures in infancy.Objectives: This study aims to characterize the demographic profile, clinico-laboratory characteristics and management of children diagnosed as familial hypomagnesemia over last 10years.Methods: Ret...

Introduction: Hypogonadism has a negative impact on bone quality, increasing the risk of reduced bone mineral density (BMD) and osteoporosis. Childhood cancer survivors are at risk of hypogonadism and are commonly submitted to puberty induction (PI). BoneXpert software assesses bone age (BA) from scanned X-rays and calculates the Bone Health Index (BHI) which correlates with the BMD values measured by dual-energy x-ray absorptiometry. The aim of this study was...

Introduction: Vitamin D dependent rickets is inherited as an autosomal recessive disease characterized by either defective metabolism of vitamin D or end organ resistance to vitamin D. Patients with these conditions commonly present with symptoms of rickets, hypocalcemia, bony changes and secondary hyperparathyroidism. Vitamin d dependent rickets can be broadly classified in two types; type 1 and type 2; on the basis of genetic defect, laboratory parameters as...

Background: Osteogenesis imperfecta (OI) is a genetic connective tissue disorder with variable phenotype, mainly characterized by bone fragility, multiple fractures, bone deformities, short stature and non-skeleton findings like blue/gray scleras. The pharmacological approach for OI is based on the use of bisphosphonates to improve bone health. Since growth failure is a predominant feature of OI, recombinant human growth hormone (rhGH) treatment has been sugge...

Duchenne muscular dystrophy (DMD) is a rare genetic disease characterized by progressive muscular dystrophy. Immobilization, the pathophysiology of the disease and treatment with glucocorticoids predispose to poor bone health, leading to an increased risk of fracture in these patients. Another of the most common associated endocrinological abnormalities is hypogonadotrophic hypogonadism, which can aggravate bone health. Knowledge of the risk factors and the natural history of ...

Introduction: The characteristic triad of symptoms in the form of fibrous bone dysplasia, skin discoloration (“café-au lait” spots) and GnRH-independent precocious puberty make up McCune-Albright syndrome (MAS). The cause of the syndrome is an activating mutation of the GNAS1 gene, which encodes the α-subunit of the Gs protein, which is a component of cell membrane receptors. We discuss the case of a patient diagnosed on the basis of t...

Introduction: The IHH gene (Indian hedgehog) is predominantly expressed in the developing skeleton. It encodes a protein produced by chondrocytes and involved in the IHH signaling pathway of paracrine cartilage growth factors (1). This protein, together with the PTHrP (parathyroid hormone-related protein) system, coordinates the proliferation and hypertrophy of chondrocytes (1). Inactivation of the IHH in humans causes numerous skeletal chondrodysplasias, incl...

Introduction: Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) is a rare cause of genetic rickets with autosomal recessive inheritance. It is caused by a defect in the type IIc sodium dependent phosphate cotransporter (SLC34A3 gene), one of the main responsible of phosphate homeostasis in the kidney. The clinical, biochemical and radiological characteristics are variable among affected individuals.Clinical case:</st...

Introduction: FHH is an autosomal dominant disorder caused by an inactivating mutation of the CaSR gene in two-thirds of cases. It is considered a "benign"and generally asymptomatic condition. On the other hand, GH and IGF1 stimulate renal synthesis of 1,25-hydroxyvitamin D and increase bone turnover.Case Report: We present a 9.8-year-old (y) male, referred for growth assessment. He was born at 36 weeks with no...