ESPE Abstracts

Background: Ectopic ACTH syndrome is very rarely seen in infancy, usually occurring in older children.Case presentation: A female infant was born by Caesarean section (BW 4280 g) with congenital anal atresia and a large tumour surrounding the cross-tail region. CT imaging identified a heterogeneous pelvic mass (76×49×38 mm) below the sacrum. On day 1 of life, a sigmoid colostomy was established and at age 1 week, part of the tumour with the coc...

Introduction: Mitotane is an adrenal-specific agent available for treatment of residual adrenocortical carcinoma (ACC) after surgery, due to a specific, direct effect on adrenal cell mitochondria impairing adrenal steroidogenesis being associated with increased SHBG and modulates their disposal for target cell. We report a rare case of uterine bleeding during mitotane treatment in a girl with recurrent ACC.Case report: A 2.6 year-old girl was diagnosed w...

Background: A significant number of long-term complications are reported in childhood acute lymphatic leukemia (ALL) survivors, and among them metabolic syndrome (MetS).Objective and hypotheses: To evaluate the prevalence of features of MetS. In addition, we evaluated the presence of steatohepatitis which is described in association with MetS in otherwise healthy subjects.Method: We assessed waist circumference, triglycerides level...

Background: GH deficiency is the most common endocrine disorder in childhood brain tumours survivors.Objective and hypotheses: To examine results and safety of GH treatment in patients with childhood brain tumours.Method: 118 patients (72 craniopharyngioma, 29 medulloblastoma, 17 germ cell tumours) received hGH in the dose 0.03–0.034 mg/kg per day for 2.3±0.8 years. The mean chronological age at the start of the treatment...

Background: Craniopharyngiomas are rare embryogenic malformations of the sellar area with low-grade histological malignancy. Its incidence is 0.5–2.0 cases per million persons per year, 30–50% of all cases become apparent in children.Objective and hypotheses: The aim of the study was to analyse the clinical symptoms and treatment efficacy in children diagnosed with Craniopharyngioma.Method: A retrospective analysis includ...

Background: Von Hippel-Lindau (VHL) disease is an autosomal dominant disorder characterized by susceptibility to tumours including haemangioblastomas of retina and central nervous system, renal cell carcinoma and phaeochromocytomas. The disease is caused by mutations in the VHL tumour suppressor gene.Objective and hypotheses: We present an adolescent with VHL disease confirmed by genetic analysis which revealed the mutation p. A149P (PCC>GCC), which ...

Background: Synchronous, multiple central nervous system (CNS) tumors are usually rare in pediatric patients. Pilocytic astrocytomas are the major type of CNS tumors in neurofibromatosis type 1 (NF1).Case presentation: A 6.5-year-old boy was admitted to our hospital for severe emaciation. Profound fat and muscle wasting were the only prominent clinical features. His growth rate was preserved despite his rapid dramatic weight loss (HT: 118 cm, P....

Background: Paediatric bone marrow transplantation (BMT) can lead to endocrine dysfunctions due to common pre-procedure protocols involving chemo and radiotherapy.Objective and hypotheses: To evaluate the prevalence and time-of-onset of endocrine dysfunctions after BMT in children and adolescents.Method: A retrospective cohort-study design was performed. The inclusion criteria were: age range less than 18 years old at the time of t...

Background: The progress made in the treatment of childhood cancer has resulted in better long-term survival rates. Therefore sequelae of treatment have become more important.Objective and hypotheses: To investigate the prevalence of early endocrine disorders in survivors of a childhood tumour within the 1st years after diagnosis.Method: We performed a retrospective medical record review of survivors followed at the endocrine clini...

Background: Familiar isolated pituitary adenomas (FIPA) encompasses the familiar occurrence of isolated pituitary adenomas outside the setting of syndromic conditions such as MEN1 and Carney’s complex, and comprise about 2–3% of pituitary adenomas. About 20% of FIPA have mutations in the aryl hydrocarbon receptor interacting protein gene (AIP), usually associated with a worse outcome.Objective and hypotheses: Evaluate the presence of AIP gene m...

Background: Gonadal function is altered up to 25% in patients who suffered cancer in childhood. Cryopreservation of ovarian tissue (COT) is an option for preserving fertility.Aims and objective: To establish the prevalence of primary hypogonadism (PH) in children with cancer after hematopoietic cell transplantation (HCT). To analyse the variables that predict progression to PH.Methods: Retrospective cohort study. Patients aged 0 to...

Background: A galactocele is a retention cyst containing milk or a milky substance that is usually located in the mammary glands caused by a protein plug that block off the outlet. It is seen in lactating women on cessation of lactation and rarely in infants and children. It presents as a large, soft, fluctuating lump in the lower part of breast. This paper is intended to report a case of Galactocele in one of the paediatric patient.Case presentation: Ga...

Background: There are no available guidelines on hormonal therapy to suppress menstruation in teenagers and young adults (TYA) undergoing chemotherapy.Objective and hypotheses: To review the use of LHRH analogues (LHRHa) (Leuprorelin (L)) or continuous progesterone (Norethisterone (N)) to defer menses in TYA undergoing chemotherapy in a single Institution and initiate guidance on its use.Method: Clinical notes of 27 TYA treated wit...

Background: Brain tumours constitute the second most common tumours in childhood after leukaemia. Infra-tentorial tumours are more common. Most of the supra-tentorial tumours (STT) are in the supra or para-sellar regions. Malignant tumours are rare. The survival is 50–90% with appropriate management. However, STT and/or treatment may lead to traumatic brain injury (TBI) with endocrinopathic sequel.Methods: This is a retrospective hospital based stud...

Background: Pituitary gigantism is a rare disorder. Paediatric endocrinologists may see at most one or two patients during their careers. In one large series of 2367 children and adolescents with pituitary adenomas, only 15 (0.6%) had pituitary gigantism. Much of our understanding is derived from isolated case reports and extrapolation from the adult literature. No sex predilection is known. Gigantism may occur at any age, and has been observed as early as the first 6–9 m...

Backgrounds and objectives: Low bone mass density is an important problem in survivors of childhood cancers. The aim of this study is to determinate the influence of factors on bone mass density (BMD) and the prevalence of abnormal bone turnover.Materials and methods: The evaluation was performed in 67 patients (64.18% boys and 35.82% girls) at least 1 year after therapy of solid tumours, aged 4–27 years (median 12.67). The following parameters were...

Case presentation: A 3 year old girl was admitted with the diagnosis of acute interstitial nephritis from the family doctor directly to our tertiary hospital. As an out-patient, the girl was treated with antibiotics with no result. She had polydipsia accompanied by day-time and night-time polyuria and enuresis that developed 2 weeks before admission. During the last year the girl showed increased appetite and escalating weight gain. At admission, her height was +3.5 SDS, weigh...