ESPE Abstracts

Background: Although growth hormone (GH) and the GH releasing hormone receptor (GHRHR) are known as etiologic factors in non-syndromic isolated growth hormone deficiency (IGHD), very few mutations have been identified in this rare condition (accounting for only 6–12.5% and 0–6.7% of IGHD cases depending on studies). The functional consequences of the identified variants have rarely been assessed.Objective and hypotheses: To assess the contribut...

Background: Mutations in the gene encoding LHX4, a homeodomain-containing factor with two LIM domains, are responsible for dominant hypopituitarisms with incomplete penetrance and variable expressivity. To date, only 14 unambiguous LHX4 mutations have been reported. Among those cases, 12 had an absent or ectopic posterior pituitary (EPP) and/or an abnormal sella turcica.Objective and hypotheses: To i) assess the contribution of LHX4 in combined pituitary...

Purpose: Isolated growth hormone deficiency (IGHD) is a rare condition mainly caused by mutations in GH1. The aim of this study was to assess the contribution of GHRHR mutations to IGHD in a very large cohort of patients.Methods: All GHRHR coding exons and flanking intronic regions were sequenced in 312 unrelated patients with non-syndromic IGHD. Functional consequences of all newly identified missense variants were assessed <e...

Background: Mixed gonadal dysgenesis is most commonly associated with 45,XO/46,XY karyotype.Objective and hypotheses: We report three cases that illustrate the genotype and phenotype variability of mixed gonadal dysgenesis.Methods: Data was extracted from Pediatric Endocrinology charts in a tertiary care centre after consenting the parents.Results: i) A 13 year old patient, 45,XO/46,X, isodicentric Y chromoso...

Background: Turner syndrome (TS) occurs in 1/2000 newborn girls. Primary ovarian insufficiency (POI), due to an increased follicular apoptosis, is a classic feature of TS. It occurs in more than 95% of TS patients. Therefore, oocyte donation is often the only option for women desiring a pregnancy.Objective and hypotheses: Few studies have reported the outcome of spontaneous pregnancies (SP) in TS patients.Method: We evaluated the p...

Introduction: A 23-month-old male was admitted for evaluation of an enlarging neck mass, persistent rash, and periorbital edema.Case Description: The toddler had a strikingly large neck mass which had rapidly progressed over 1 month. He presented with a pustular and petechial rash primarily on his scalp which had been unresponsive to multiple treatment modalities. Initial work-up for his neck mass revealed a TSH of 19.7m...

Background: Avascular necrosis (AVN) is common in Sickle Cell Disease (SCD), frequently involving the femoral and humeral head and less commonly involving the spine. AVN leads to joint collapse, chronic pain and disability, and often requires joint replacement in early adulthood. There are no medical therapies for AVN in SCD despite the high burden of disease and there are no published reports of bisphosphonate therapy in this condition....

Childhood-onset growth hormone deficiency (CO-GHD) is topical at present due to the increasing understanding of underlying genetic aetiologies, influence on childhood growth, and future effects on adolescence and adult health. There is no previous Irish data of this group of children.Methods: A retrospective cohort study over 2 years (2013-2015) including all children diagnosed with GHD who received recombinant growth hormone treatment (rGH). Predictors ...

Background: CO-GHD can be caused by a variety of aetiologies, including pituitary or brain structural abnormalities, and increasingly recognised genetic mutations of pituitary transcription factors. Idiopathic GHD is a diagnosis of exclusion. POU1FI is a late pituitary transcription factor. Mutations of POU1F1 have autosomal recessive (AR) inheritance, and phenotypically present with a normal or small anterior pituitary gland on magnetic resonance imaging (MRI), they are assoc...

Background: Bone marrow transplantation (BMT) is known to affect endocrine function, most commonly causing primary hypothyroidism and hypogonadism in children. Newer reduced intensity conditioning (RIC) uses less myeloablative chemotherapy and no irradiation. Our study goal was to evaluate endocrine effects at 1 year post BMT in pediatric patients who received RIC.Methods: Retrospective, IRB-approved chart review was performed on 121 patients (44 females...