ESPE Abstracts

Background and aims: Early puberty (EP) in girls, characterized by the onset of thelarche between 6 and 8 years of age and/or rapid pubertal progression, remains a topic of debate. This study aims to assess the clinical and hormonal characteristics of girls with early and fast puberty (FEP) and their response to treatment with GnRH analogs (GnRHa) on growth, pubertal progression, and bone maturation.Methods: Data from 22...

Introduction: Central precocious puberty (CPP) occurs as a result of early activation of the hypothalamic-pituitary-gonadal axis. CPP. In recent years, especially after the COVID pandemic, presentations with signs of precocious puberty and cases requiring treatment have increased all over the world. Recent studies have showed that CPP patients are more likely to have social and psychiatric problems than their peers of the same age and gender. The aimof our stu...

Background: Pubertal assessment is based on patient history, physical examination, bone age, blood tests, and in some cases, endocrine “stimulation tests”. Sex hormones are present in saliva and may serve as a cost-effective, simple, and painless alternative for invasive blood or stimulation tests performed at day care units. Previous studies showed correlation between saliva-and-blood levels of sex hormones; However, it is not in routine clinical ...

Purpose: Gonadotropin-releasing hormone agonists (GnRHa) are commonly used to treat children with central precocious puberty and generally well-tolerated. However, as the number of cases using increases, drug-related adverse reactions are also on the rise. This study aim ed to report the clinical experience with hypersensitivity reactions in pediatric patients receiving GnRHa at a tertiary medical center, especially the relatively rare cases of failure to supp...

Background: Adolescents with chronic disease need to develop independent self-care and learn to communicate effectively with their health care team in transition from pediatric to adult- health care systems. Older adolescents are going through many challenges related to physical and emotional development, education and career choices, family, and peer relationships. The presence of a chronic disease adds an additional burden. At this stage of development, tran...

Introduction: Central precocious puberty (CPP) is typically treated with gonadotropin-releasing hormone (GnRH) agonists. Although there are numerous GnRH agonist variants available, there is limited research comparing the timing of menarche in girls treated with monthly (3.75 mg) versus 3-monthly (11.25 mg) Leuprolide acetate. The objective of this study was to evaluate the timing of menarche after the administration of monthly and 3-monthly Leuprolide acetate...

The diagnosis of traumatic pituitary stalk interruption is often delayed. Late clinical manifestation can be life-threatening for the patient. We present a 17-year-old boy admitted to the Department of Pediatrics and Endocrinology due to delayed puberty. At 12 months old, he was hospitalized in the ICU after a severe head injury from a traffic accident, kept in a medically induced coma, and likely had transient diabetes insipidus. Following this, he had periodic neurological s...

A teenage girl was referred to our paediatric endocrinology service at the age of 18years, with primary amenorrhoea. She was diagnosed with Moebius syndrome at the age of 2 years with bilateral facial weakness, ptosis and restricted eye movements following review with geneticists in 2002. She was also diagnosed with autistic spectrum disorder in early primary school age, associated with learning disability. She was born at term, at 3.03 kg (9th centile). She had neo...

Context: Gonadotropin-releasing hormone analogues (GnRHa) and recombinant human growth hormone (rhGH) have been widely used to treat idiopathic central precocious puberty (ICPP)，yet the treatment benefit in girls between 8 and 10 years is equivocal.Objective: This study aimto evaluate the effects of GnRHa combined with rhGH on final adult height (FAH) and to identify the factors influencing FAH.<p class="abste...

Objective: Obesity has been reported to be associated with both attention deficit hyperactivity disorder (ADHD) and central precocious puberty. The purpose of the current study was to examine the prevalence of ADHD in girls with central precocious puberty and to compare body mass index (BMI) of the girls with ADHD and CPP together and the girls with CPP alone.Method: Girls with central precocious puberty were prospective...

Background: Central precocious puberty (CPP) presents a clinical challenge due to early physical development and the potential for a reduction in final height, which may lead to psychosocial issues. The most common etiology of central precocious puberty among girls is idiopathic central precocious puberty, while among boys, neurogenic central precocious puberty and congenital adrenal hyperplasia (CAH) are more prevalent. Gonadotropin-releasing hormone analogs ...

Background: Congenital isolated hypogonadotropic hypogonadism (&Scy;IHH) is a clinically and genetically heterogenous disorder characterized by absence or abnormal gonadotropin-releasing hormone secretion (GnRH). Adolescents with CIHH have complete or partial pubertal failure. Pathogenic variants in more than 60 genes have been associated with CIHH. CIHH can be complete, partial or reversal. Boys with CIHH may have micropenis and cryptorchidism. Except reprodu...

Introduction: Loss-of-function mutations in the arylhydrocarbon-interacting protein (AIP) gene contribute to familial isolated pituitary adenomas, particularly growth hormone (GH)-secreting adenomas. This report presents a case of gigantism in a patient with a GH-secreting macroadenoma and an identified AIP mutation.Case Presentation: A 15-year-old male presented with complaints of excessive he...

Introduction: Euvolemic hyponatremia is a typical feature of the syndrome of inappropriate secretion of antidiuretic hormone (SIADH). Excessive secretion of antidiuretic hormone (ADH) leads to activation of the type 2 vasopressin receptor (AVPR2) in the kidneys, which plays a role in concentrating urine. Etiologies of SIADH include cranial surgery, intracranial malignancy, meningitis-encephalitis, cerebral hemorrhage, other cerebral pathologies, pulmonary path...

Introduction: Congenital hypopituitarism is a heterogeneous disorder that involve combined pituitary hormone deficiencies.Patients and Methods: Longitudinal review of pediatric cases with congenital hypopituitarism follow up in a third level hospital.Inclusion criteria: patients under 18 years at diagnosis with combined pituitary hormone deficiencies....

Background: Precocious puberty refers to the early development of secondary sexual characteristics in girls before the age of eight. It is classified into two categories based on the cause: central (GnRH dependent) and peripheral (GnRH independent) precocious puberty. Brain MRI is the most commonly used method to assess underlying brain pathology, particularly in girls under the age of six.Objective: The aimof this study...

Background: Central precocious puberty (CPP), early fast puberty (EFP) and early puberty (EP) are considered as deviations from normal variability of pubertal tempo. Gonadotropin releasing hormone agonists (GnRHa) have been considered the treatment of choice for CPP for decades, and later for EFP. Several pharmaceutical formulations of GnRHa have been developed, differing in the route and frequency of administration. Treatment was administered mainly by intra-...

Introduction: Pituitary stalk thickening (PST) is a rare disease and can cause hormonal deficits and/or mass effect. The most frequent causes in pediatric age are germ cell tumors (GCT) and Langerhans cell histiocytosis (LCH). Hypophysitis with extension to the stalk is extremely rare in pediatric patients. The aimis to describe 4 pediatric patients which were first diagnosed as hypophysitis but final diagnosis was GCT.Clinical C...

Background: Neuropsychiatric symptoms can be present in patients with central precocious puberty (CPP), with or without abnormalities in brain magnetic resonance imaging (MRI). However, they are especially common in those with CPP-related lesions.Aim: To assess the prevalence of brain lesions detected by MRI in a cohort of children with CPP and to evaluate the occurrence of neuropsychiatric manifestations.<p class="a...

This report provides an overview of the Molecular Genetics-Function and Therapy (MGFT) department's present and past activities at the Cyprus Institute of Neurology and Genetics (CING), serving as an affiliated Reference Center (RC) for the European Reference Network on Rare Endocrine Conditions (Endo-ERN). Over a period of more than 15 years, the MGFT department has collaborated extensively with endocrine specialists from local government hospitals and the private sector...

Baraitser-Winter cerebrofrontofacial syndrome (BWCFF; ORPHACODE 2995) is a multiple congenital anomaly syndrome characterized by distinct craniofacial features and intellectual disability. Affected individuals often present with pachygyria, predominantly in frontal regions, shoulder girdle muscle wasting, and sensory impairment due to iris or retinal coloboma and/or sensorineural deafness. Intellectual disability varies and correlates with the severity of brain malformations. ...

Purpose: Transaldolase deficiency is a rare, multisystemic, autosomal recessive disease of carbohydrate metabolism characterized clinically by IUGR, bicytopenia (70%), congenital heart diseases (60%), dysmorphic features (50%), liver failure, hepatosplenomegaly, nephrolithiasis and endocrine disorders (30%).Case: A 15-year-5-month-old girl patient was admitted with primary amenorrhea. It was learned that the patient, who...

Background: GLI2 is a transcription factor downstream in SH signaling, playing an early role in ventral forebrain and pituitary development. GLI2 mutations have been reported in patients with holoprosencephaly and/or congenital hypopituitarism, showing significant phenotypic variability. Here, we present a case involving a novel heterozygous missense mutation in GLI2.Case Presentation: An Indian girl, adopted by an Itali...

Purpose: Peripheral precocious puberty is a variant of puberty in which gender characters emerge independent of the hypothalamo-pituitary axis. It may occur with ovarian-testicular-adrenal pathologies, hCG-secreting tumors, Mc. Cune Albright Syndrome, or an endocrine disruptor that may be a source of exogenous estrogen. In premature menarche, which is the other variant of early puberty, prepubertal uterine bleeding is observed independently of other findings o...

Keywords: Ulnar-mammary syndrome; TBX3 gene; Hypogonadotropic hypogonadism; Skeletal anomalies, PolydactylyBackground: Hypogonadotropic hypogonadism (HH) is an increasingly frequent medical condition deriving from a dysregulation of the hypothalamic-pituitary-gonadal axis function, which leads to low sex hormone levels associated with low gonadotropin levels. It can be congenital or acquired. Congenital HH, whose inciden...

Background: Central precocious puberty (CPP) and early puberty (EP) are characterized by premature breast development. Girls with CPP and EP who experience rapid pubertal progression are treated with gonadotropin-releasing hormone analog (GnRHa) to halt pubertal advancement and optimize height potential. However, studies on factors impacting near-final height (NFH) for CPP and EP in Asian girls remain scarce. We aim ed to explore the factors associated with pr...

Introduction: Central precocious puberty (CPP) is a condition characterized by early signs of sexual development. Mutations in the MKRN3 gene located on chromosome 15q11.2 are rare but are among the most common causes of familial precocious puberty. Early signs of puberty may occur due to the inability to produce this inhibitory protein normally or due to its malfunction resulting from mutations in the MKRN3 gene. Mutations in the MKRN3 gene follow autosomal d...

Introduction: Mini-puberty is defined as the transient activation of the hypothalamic-pituitary-gonadal (HPG) axis during the first 3-6 months of life. Postnatal HPG activation occurs more robustly and for a longer duration in premature infants compared to term infants. In this report, we present a case of severely premature infant who presented with vaginal bleeding during the mini-puberty period.Case: A 5-month and 12-...

Introduction: Central adrenal insufficiency due to isolated adrenocorticotropic hormone (ACTH) deficiency is rare. The etiology often involves homozygous or compound heterozygous mutations in genes related to the production and terminal differentiation of proopiomelanocortin (POMC). POMC deficiency is characterized by central adrenal insufficiency, early-onset obesity, red hair, and reduced skin pigmentation. Here, we present a case diagnosed with POMC deficie...

Background: MKRN3 is known to decline prior to pubertal development in healthy individuals, indicating a potential inhibitor effect on reproductive axis. Currently, MKRN3 loss-of-function mutations represent the main genetic cause of familial central precocious puberty (CPP) in both sexes. The impact of these mutations on MKRN3 serum levels is poorly understood.Aim: To assess serum MKRN3 levels in girls with CPP...

Introduction: Intracranial teratomas constitute 0.5% of all intracranial tumors. Teratoma localized in the sellar region is very rare in children. Here, we will present a case in which growth hormone deficiency was detected upon admission with complaints of short stature, craniopharyngioma was considered on cranial imaging, and sellar teratoma was diagnosed during the operation.Case: A four-year-ten-month-old male patien...

Introduction: Pituitary adenomas, while rare in the pediatric population, pose significant challenges in terms of diagnosis and treatment despite their generally benign nature. The aimof this study was to elucidate the clinical features, hormonal profiles, and therapeutic interventions employed in the management of prolactinoma in a pediatric cohort.Methods: This study included children <18 years diagnosed with prolac...

Introduction: Hypothalamus is a key regulator of hunger and energy expenditure. Children with CNS tumours are at risk of hypothalamic and pituitary dysfunction which could be related to the direct effects of the tumour or treatment.Aim: To assess the prevalence and severity of obesity in children diagnosed and treated for CNS tumours at a tertiary paediatric centre.Methods: We retr...

Introduction: Intracranial germ cell tumors (GCTs) are rare and likely to present with peripheral precocious puberty (PPP). We report the case of a 5-year-old boy with pineal GCT, in whom, although he presented with advanced peripheral precocious puberty, levels of β-chorionic gonadotropin (β-HCG) were mildly elevated, not diagnostic of GCT, posing a diagnostic dilemma.Methods: A 53/12 year- old boy ...

There is significant variability among diagnostic studies used for precocious puberty and their cutoff points for diagnosis. Pelvic ultrasound (PU) is a non-invasive, ionizing radiation-free diagnostic tool. Doppler flow analysis in uterine arteries, specifically the uterine pulsatility index (PI), can be a useful tool in the diagnosis and/or treatment of central precocious puberty (CPP) and has the advantage of being sensitive to hormonal changes. Its value decreases as vascu...

Introduction: Central precocious puberty is characterized by early activation of pituitary-gonadal axis, often associated with high levels of insulin-like growth factor-I (IGF-I), together with accelerated growth and bone maturation, which can ultimately lead to a low adult height (HT). Treatment with GnRH-agonists (GnRHa) can help reducing growth acceleration and rate of bone maturation, though not always restoring prepubertal growth velocity. The causes of d...