ESPE Abstracts

Background: CHARGE is an autosomal-dominant syndrome which includes a variable combination of coloboma of the eye, heart malformations, atresia of the choanae, retardation of growth and development, and genital and ear abnormalities CHARGE syndrome has rarely been associated with anterior pituitary dysfunction and with structural abnormalities of the pituitary gland only twice. We report the case of a child with CHARGE association and congenital hypopituitaris...

Background: Hormone-secreting pituitary adenomas in children and adolescents are rare.Methods: We report clinical course, management and outcome of 6 cases diagnoses in 2013-2019.Results: Patients (3M, 3F), aged 9,5 – 16,5 years at referral. In them, 3 ACTH-secreting adenomas (ACTHA) and 3 prolactinomas (PROLA) were recognized. The family history for endocrine tumors was negat...

Introduction: ROHHAD syndrome (Rapid-onset Obesity with Hypoventilation, hypothalamic and autonomic dysregulation) is a rare and complex disease with potential fatal outcome. To this day there have been 158 cases reported in the literature while whole exome sequencing has not yet revealed any responsible genes. It usually presents at the age of 2-4 years and the diagnosis is based on the following criteria: 1) rapidly progressive obesity that develops at the a...

Background: Detail knowledge of pubertal development mode in girls with Turner syndrome (TS) who underwent hormone replacement therapy (HRT) is benefit for the proposal of an optimal HRT. The study was to study the pubertal development mode of girls with TS who underwent HRT and to evaluate the optimal therapy for sex induction in girls with TS.Method: We present a retrospective, longitudinal study over the past two deca...

Introduction: Wilms tumor is the most frequent pediatric renal malignancy and its usual presentation is an abdominal mass or hematuria. Unusual presentations have also been reported, such as paraneoplastic syndromes (acquired von Willebrand disease, sudden death due to pulmonary embolism and Cushing syndrome). These conditions can precede, occur concomitantly or present in a later phase of tumor development. Precocious puberty, as paraneoplastic endocrine synd...

Department of Pediatric Endocrinology, Shanghai Children's Hospital, Shanghai Jiao Tong University, Shanghai, ChinaAbstract Withdrawn...

Background: Feminising preocious pseudo-puberty in McCune Albright syndrome (MAS) and juvenile granulosa cell tumour (JGCT) arises from bilateral and unilateral estradiol hypersecretion respectively. GNAS mutations have been described in some cases of JGCT as well causing MAS.Aim: To describe a case in which MAS was evoked initially, but then progressed to JGCTCase: A girl aged 2 y...

Background: Prader-Willi syndrome is a genetic disorder characterized by obesity, short statue, hypotonia and hypogonadism. Delayed or incomplete puberty are usually found in PWS, whereas central precocious puberty is very rare.Objective: This study aimed to report the case of a boy with PWS who was diagnosed with precocious puberty during growth hormone replacement therapy.Methods...

Introduction: Mutations in FGFR1, which is involved in formation and migration of neurons responsible for the production of gonadotropin-releasing hormones, may either cause isolated hypogonadotropic hypogonadism (HH) or Kallmann syndrome (KS). In addition, FGFR1mutations were reported in 2.7% of the cases with multiple pituitary hormone deficiency.Case: A 16-year-old male was referred to our clinic...

Introduction: Prolactinoma is the most frequent pituitary tumor (40 %) in children and adolescents is more common in females, sporadic and benign. It is classified into microprolactinoma (< 1.0 cm) and macroprolactinoma (>1.0 cm). In girls it presents clinically as amenorrhea and galactorrhea and occasionally as increased intracranial pressure. Management consist of medications and surgery.Objectives: To char...

Introduction: POU1F1 is an essential transcription factor for the differentiation, proliferation and survival of somatotrophs, lactotrophs, and thyrotrophs. Mutations in the POU1F1 gene are characterized by growth hormone (GH), thyrotropin and prolactin deficiencies, commonly presenting with growth retardation and central hypothyroidism. Since the first report in 1992, about 26 mutations have been identified in POU1F1.<...

Introduction: Pituitary stem interruption syndrome (PSIS) is a congenital abnormality of the pituitary gland responsible for pituitary insufficiency. Its prevalence is unknown but about 1000 cases have been reported to date. It is characterized by a triad associating a very fine or interrupted pituitary stalk, an ectopic posthypophysis (PH) or absent and a hypoplasia of the anterior pituitary, visible on the MRI. The etiology of PSIS remains unknown.<p cla...

Objectives: Forkhead box A2 (Foxa2) is a transcription factor that plays a key role in foregut, pancreatic and central nervous system development. Here, we describe a 7 years old boy whose phenotype is consistent with FOXA2 defect.Case: A 3 months old boy was referred for recurrent hypoglycemic events. He was born to unrelated parents at term with a birth weight of 3690 gr. At 6 hours of life he had severe hypoglycemia (...

Gonadotrophin Releasing Hormone agonists (GnRHa) are used in the management of true precocious and early onset puberty. They have been associated rarely with severe adverse effects such as slipped capital femoral epiphysis, sterile abscess formationand anaphylaxis. Anaphylactic reactions had been reported at a low incidence rate. They can occur early or late after starting treatment or be recurrent after an injection due to the analogue's long half-life.The allergic reacti...

We present two cases of a 13-year-old boy and a 12-year-old girl who were initially diagnosed as central diabetes insipidus (CDI). The Magnetic resonance imaging (MRI) showed pituitary stalk thickening with prominent homogeneous contrast enhancement in T1W and the loss of high signal in the posterior pituitary. In addition to CDI, the two children have a common clinical manifestation of growth retardation, with the laboratory tests suggesting complete growth hormone deficiency...

Backround: Craniopharingiomas are rare embryogenic malformations of the sellar and parasellar region with slow growth and high local recurrence rate. Due to their unfavorauble location, presurgical hypothalamic involvement and treatment-related hypothalamic damage is frequent and lead to hypothalamic syndrome.Objective: we compare weigh gain and growth pattern regarding to hypothalamic involvement of pediatric patients a...

Introduction: Niemann Pick type B (NMP B) is a rare lysosomal storage disease caused by mutations in the SMPD1 gene. Typically, had normal height and weight. In this work, we report an unusual association of a Niemann Pick disease in a child with hypopituitarism.Case:We report the case of a young boy who was hospitalized at the age of 11, in Hematological Department for splenomegaly and polyadenopathies where the d...

Background: Precocious puberty associated with profound hypothyroidism is a rare condition. It is usually characterized by breast development, vaginal bleeding, and lack of pubic hair. Multi cystic ovaries in profound hypothyroid patients with precocious puberty have been rarely described.Case Presentation Summary: A 6 year and 10 month old girl was referred to Wahidin Hospital with precocious puberty. The girl was admit...

Objective: To investigate the early predictors of serum IGF-1, DHEAS, AMH and BMP-6 in rapidly progressive puberty girls.Methods: 750 cases of central precocious puberty(CPP), early puberty(EP) and rapidly progressive puberty(RPP) in Children's hospital of Soochow university were recruited from August 2017 to December 2018. After follow-up six months to one year, 138 girls were divided into CPP(n=32), EP...

Introduction: Long-standing primary hypothyroidism is an unusual cause of pituitary hyperplasia (PH) in children, sometimes difficult to distinguish on CT or MRI from primary pituitary tumors. Loss of thyroxine feedback determines overproduction of thyrotropin releasing hormone (TRH) and subsequent TSH-releasing cells hyperplasia in the anterior pituitary. Levothyroxine replacement therapy has been shown to usually determine regression of PH.<p class="abst...

Background: Congenital Proopiomelanocortin deficiency (POMC) is a rare autosomal recessive disorder characterized by the association of adrenal insufficiency, early onset obesity, hyperphagia and altered skin & hair pigmentation. POMC is a complex propeptide encoding a range of melanocortin peptides that are released by tissue-specific proteolytic processing. These peptides have important roles in a range of functions such as skin pigmentation and the cont...

Delayed puberty (DP) in boys is considered the most common hypoandrogenia of puberty. It should be noted that DP adversely affects physical development, body formation and the health status of adolescents. The heterogeneity of the population of adolescents with DP has led to a differentiated approach and the allocation of the following three clinical options (CO) of DP: 1 - DP, accompanied by growth retardation; 2 - DP without significant deviations in physical development; 3 ...

Case: MMW was born at 39 weeks by elective caesarian section because of placenta praevia with a birth weight of 2.32kg.She was known to dietetics and medical services because of failure to thrive and short stature (BMI SDS -3.32, Height SDS -2.21). Due to chronic upper airways obstruction, she had a tonsillectomy at aged 2.5 yrs. Following this, appetite and weight improved (BMI SDS -1.3) but abdominal pains prompted blood investigations which revealed positiv...

Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS) is a mitochondrial multisystem disorder. The m.3243A>G pathogenic variant in the mitochondrial gene MT-TL1 is present in approximately 80% of individuals with MELAS. In this article, we report a 7-year-old girl with the classical MELAS phenotype. After the age of 1 year, she had recurrent episodes of nausea and vomiting. In this episode, she presented with focal seizures ...

Background: The causes of most cases in girls with central precocious puberty is idiopathic, and tend to be older compared with neurogenic causes. When confronted with a very young child with sexual precosity, full endocrine work up is necessary and there is no doubt for the need to treat.Case: SG presented at the age of 2.6 years with thelarche and pubarche for one month. As her mother is tall (175cm, 97th centile), she...

Introduction: Gain-of-function mutations in KISS1 and KISS1R genes and loss-of-function mutations in the gene encoding the makorin RING-finger protein 3 (MKRN3) expressed only in the paternal allele are the most common genetic reasons of familial central precocious puberty (CPP).Aim: We report a case of familial CPP and a pathogen variant in the MKRN3 gene.<stron...

Introduction: Early puberty is defined in the girl by the appearance of secondary sexual characteristics before the age of 8 years. Unlike the boy, the central origin is most often idiopathic. The familial nature encourages looking for a genetic mutation which can explain this early maturation of the gonadotropic axis.Cases: These are three girls from a consanguineous marriage. They had no particular pathological anteced...