ESPE Abstracts

Background: Mini-puberty is one of the most essential events of infancy, with intermittent alterations that relate to puberty presentations, and it is critical for sexual development in both sexes. It represents the maturation of sexual organs after activation of the hypothalamic-pituitary-gonadal (HPG) axis during the neonatal period, resulting in high gonadotropin and sex steroid levels; allows for the development of the genital organs and creates the basis ...

Background and aims: The impact of GnRH treatment on the timing of menarche, menstrual cycle status, and onset of menopause in girls with early/precocious puberty is of clinical interest. This study aims to provide insight into the effects of GnRH treatment on these aspects.Methods: A comprehensive literature search was conducted on PubMed for English articles published between 2010 and 2023. The focus was on studies, me...

Purpose: Gonadotropin-releasing hormone (GnRH) analog is the first-line treatment with precocious puberty happens before age 8 in girls. This study is aim ed to investigate the relationship between height gain and other factors, specifically to analyze validated tool for predicting adult height for precocious puberty or early puberty.Method: From January 2022 to June 2022, 32 girls with central precocious puberty who vis...

Eight years old girl presented with vaginal bleeding at Endocrine clinic. Bleeding occurred twice with 3 months apart. By examination: Height: 140 cm (2.3 SDS), Target height: (-0.6 SDS), Tanner staging: A1, P2, B3 bilaterally. Routine basic investigations were normal apart from microcytic hypochromic anemia. Thyroid profile was normal. Bone age was advanced (11 years), Abdominopelvic ultrasound showed normal average sized uterus with enlarged left ovary (15 ml) with 2 hemorrh...

Introduction: In pediatric age range pituitary hyperplasia (PH) defines a reversible enlargement due to increase in the number in one or more hormone-producing cell types. It can occur as a normal response to physiological stimulation (puberty, pregnancy) or as a pathological condition. PH secondary to primary hypothyroidism (PHT) is a common finding. Long-standing severe PHT induces PH via thyrotropin-releasing hormone (TRH).Cas...

Introduction: Prolactinomas represent 50% of all pediatric pituitary adenomas. Microadenomas (tumors with less than 40 mm in maximum diameter) and giant prolactinomas (more than 40 mm in maximum diameter and prolactin levels > 1000 μg/L) are more commonly found in boys. Giant prolactinomas are rare, but invasive, accounting for 1–5% of prolactin-secreting tumors. We hereby report a female patient with neuro-ophthalmic symptoms (headaches and left 3...

Menarche is a late pubertal event that occurs at an average age of 12.4 years and follows on an average of 2.5 years after the onset of breast development. When it occurs before the age of 10 years, it is considered early menarche. Isolated premature menarche is defined as onset of vaginal bleeding in a prepubertal female, in the absence of appropriate secondary sexual characters or a known pathological cause. It can present with isolated or recurrent periodic episodes of blee...

We report a 12-year-old boy who has grown up with central hypothyroidism diagnosed since newborn. The boy was born at 41 weeks of gestation with birth weight of 3520 gram. Newborn screening detected abnormal thyroid function – Cord blood TSH 0.86 mIU/L and free T4 6.76 pmol/L, day 6 TSH 0.63 mIU/L and free T4 9.65 pmol/L. History revealed no history of maternal thyroid disease nor family history of thyroid disease, no drugs or herbs intake during pregnancy, and no sympto...

Introduction: Rathke's cleft cyst (RCC) is a non-neoplastic epithelial lesion of the sellar or suprasellar region. Although most RCC cases are asymptomatic, they can present with headache, visual defects, and endocrine dysfunction. We present a case diagnosed with a giant RCC postoperatively, characterized by short stature and multiple pituitary hormone deficiencies.Case: A 15-year-old male, who came with complaints...

Introduction: It has been suggested in the literature that gynecomastia may occur in patients with neurofibromatosis type 1 (NF-1) and may develop due to neurofibroma or stromal tissue hyperplasia. In this case study, we will share our experience of managing a patient diagnosed with NF-1 who developed gynecomastia before puberty.Case: A nine-year-old male patient with a diagnosis of NF-1 presented with complaintsof short...

Background: Prader–Willi syndrome (PWS) is a rare genetic disorder caused by a loss of function of specific genes on chromosome 15. It is characterized by infantile lethargy and hypotonia causing poor feeding and failure to thrive, childhood obesity, short stature, and hypogonadism, that causes incomplete, delayed, and sometimes disordered pubertal development.1 Precocious puberty is very rare in PWS. We report a girl with PWS and idiopathic p...

Background: Pituitary hyperplasia secondary to primary hypothyroidism (PHPH) is a rare cause of sellar mass in paediatric patients. Longstanding and untreated primary hypothyroidism leads to hyperplasia of thyrotrophs and lactotrophs as well as transdifferentiation of somatotrophs to thyrotrophs. Hashimoto's thyroiditis is the most common cause of hypothyroidism in PHPH. Clinical findings of PHPH include growth retardation, obesity and symptoms of hypothy...

Background: Pituitary hyperplasia secondary to primary hypothyroidism has been reported in adult patients but is rare in paediatric patients. Despite advances in imaging technology, distinguishing between pituitary adenoma and pituitary hyperplasia remains a challenge. This differentiation is important as the primary modality of treatment in hyperplasia is thyroid hormone replacement and not neurosurgical intervention.Case report...

Background: Hyperprolinemia is a rare autosomal recessive disorder with two distinct types: I (HPI) and II (HPII). The clinical presentation varies widely, with some individuals remaining asymptomatic and others exhibiting neurological, renal or auditory defects and seizures. Pituitary Stalk Interruption Syndrome (PSIS) is a rare congenital pituitary defect, characterized by a thin or absent pituitary stalk, hypoplasia of the adenohypophysis, and ectopic neuro...

Introduction: Pituitary stalk interruption syndrome (PSIS) is a congenital anomaly of the pituitary gland responsible for pituitary insufficiency. Its prevalence is unknown but approximately 1000 cases have been reported to date. It is characterized by a triad associating a very thin or interrupted pituitary stalk, an ectopic or absent posterior pituitary gland (EPP) and hypoplasia of the anterior pituitary gland, visible on MRI. Its etiology remains unknown.<...

Introduction: McCune-Albright syndrome (MAS) is characterized by fibrous dysplasia (FD), cafe-au-lait skin spots and precocious puberty (PP). MAS is a rare disorder and its prevalence is estimated to be between 1/100 000 and 1/1 000 000. Activating somatic mutations of GNAS gene located on chromosome 20q13 encoding the α-subunit of the regulatory Gsα protein are responsible for the entity.Observation: This is...

Introduction: Prolactinomas, constitute 50% of pediatric pituitary adenomas and 2% of all intracranial tumors. These tumors disrupt normal dopamine regulation, leading to hyperprolactinemia and mass effects that impair growth, puberty, and reproduction. Early detection is vital to prevent complications and preserve fertility. This case report outlines diagnostic challenges and management of a prolactinoma in a 15-year-old boy with visual disturbances, delayed ...

Background: Early identification of idiopathic hypogonadotropic hypogonadism (HHI) and constitutional pubertal delay is quite challenging for pediatricians. In males, serum inhibin B levels are detectable throughout life, with marked changes during puberty. We present the case of a young male with GHD in rhGH treatment without progression in Tanner pubertal stages during follow-up.Case report: A fourteen-year-old male pa...

Background: IGSF1, located on chromosome Xq26 and highly expressed in Rathke´s pouch, pituitary and testes, codes for a plasma membrane immunoglobulin superfamily-1 glycoprotein. Mutations in IGSF1, first described in 2012, lead to IGSF1-deficiency, a unique combination of mild central hypothyroidism (prevalence 100%), macroorchidism (80%) and hypoprolactinemia (60%). Additional symptoms comprise delayed pubertal testosterone rise (80%)...

Background: Primary hypogonadism in females is characterized by inadequate ovarian function, resulting in insufficient or absent production of estrogens. This case report aims to present a rare case of primary amenorrhea in a female child where bone marrow transplantation (BMT) was performed due to the beta-thalassemia.Case presentation: A 14-year-old girl approached the endocrinology department for evaluation due to del...

Background: Fahr's syndrome is a rare neurological disorder, characterized by symmetric calcifications in basal ganglia, cerebellum, and cerebral cortex, secondary to genetic, infectious, and autoimmune etiologies which can lead to movement and gait disorders, cerebellar and speech abnormalities, and cognitive impairment. Fahr's disease is defined as primary familial idiopathic calcification, while Fahr's syndrome is caused by secondary factors ...

Background: PSIS results in thin or absent pituitary stalk, adenohypophysis hypoplasia or aplasia, and ectopic neurohypophysis, confirmable by MRI. PSIS is a common cause of panhypopituitarism, often presenting with hypoglycemia in infancy or growth failure in childhood. Patients can present variable degrees of pituitary hormone deficiency and a large spectrum of clinical manifestations. Here, we report a unique case of PSIS presenting with absence of secondar...

Introduction: Complex diseases are defined by the interference of different genetic and environmental factors and the contribution of each factor is often hard to unravel. In this report, we present a case where different complex diseases intertwine.Case report: We report the case of a 12 month old girl who was addressed to the endocrinology department due to hypotonia and short stature. The pregnancy had been uneventful...

Background: Hypoxic-ischemic encephalopathy (HIE) after return of spontaneous circulation (ROSC) following cardiac arrest can sometimes be complicated by central diabetes insipidus (CDI). However, studies on the clinical course of CDI in children are limited.Objective: This study aims to investigate the time and conditions required for the onset and diagnosis of CDI in children with HIE after ROSC....

Introduction: Empty sella, is a radiologic finding in which the sella turcica appears empty due to cerebral spinal fluid (CSF) within the subarachnoid space herniating into the sella turcica. Subsequently, the pituitary gland contained in the sella turcica is compressed and flattened, and the pituitary stalk is stretched by the CSF, which fills the space. It’s usually associated with growth hormone (GH) restriction which is clinically imprinted with a de...

Introduction: Adipsic diabetes insipidus (ADI) arises from the destruction of both antidiuretic hormone (ADH) neurons and osmoreceptors in the hypothalamus. This condition is characterized by polyuria, loss of thirst sensation and hypernatremia. Managing serum sodium levels is particularly challenging, often resulting in fluctuations in serum sodium and osmolality, which elevate the risk of morbidity and mortality. This report presents the clinical follow-up o...

Introduction: Central Diabetes Insipidus (CDI) is characterized by polyuria, polydipsia and weight loss, resulting from impaired secretion of Antidiuretic Hormone (ADH) in response to serum osmolarity changes. Langerhans Cell Histiocytosis (LCH)is an inflammatory myeloid neoplasm that can affect all organ systems, with central nervous system involvement frequently localized in the posterior pituitary. This report presents a case of pituitary stalk thickening d...

Introduction: Congenital hypogonadotropic hypogonadism (CHH) is a rare genetic disease caused by GnRH deficiency. It is characterized by absent or incomplete puberty with infertility due to inadequate secretion of LH and FSH. Inactivating mutations in KISS1R is transmitted as a recessive trait. It is also known as the GPR54 gene, and encodes a G-protein-coupled receptor or receptor for kisspeptins. The binding of kisspeptin to these receptors in the hypo- thal...

Introduction: Precocious puberty in males is less common compared to females and an organic cause is more likely. Therefore, a detailed clinical review is crucial to identify a diagnosis. Our case highlights an unusual cause of precocious puberty.Case Report: A 5-year-old boy presented with precocious puberty. He was born preterm and had cerebral palsy and attention deficit hyperactivity disorder. There was no family his...

Septo-optic dysplasia (SOD) is characterized by optic nerve hypoplasia, hypothalamic-pituitary axis dysfunction and brain’s midline structures defects. His clinical features are heterogeneous. They consist mainly in visual impairments, endocrine dysfunction, cognitive and neurological abnormalities. We present a patient of 6 years old, affected by SOD, central diabetes insipidus, central hypothyroidism and growth hormone deficiency (GHD). She was born at 40+2 gestational...

Introduction: Precocious puberty, is the development of sexual characteristics occurring before the age of 8 in girls and 9 years in boys, it is a reason for consultation which is becoming frequent, the etiologies are numerous, it Central forms mainly act by early activation of hypothalamic-pituitary-gonadal (HPG) axis which can be idiopathic or secondary to congenital or acquired lesions, rarely the peripheral origin can be the cause.<s...

Prolactinoma is the most common pituitary adenoma in children and adolescents originating from lactotrophic cells, autonomously secreting prolactin, usually diagnosed >12 years of age, more often in girls. We present the case of a 17-year-old girl, diagnosed in the Endocrinology Outpatient Clinic of the University Children's Clinical Hospital in Bialystok, due to excessive weight gain and secondary amenorrhoea. The girl was referred to the Department of Paediatrics, En...

Context: Corticotropin-releasing hormone (CRH)-stimulated inferior petrosal sinus sampling (IPSS) has an important role in the differential diagnosis of hypercortisolism of pituitary or ectopic origin as the most accurate procedure in terms of sensitivity and specificity compared with clinical, biochemical and imaging analyses. However, due to the cost and unavailability issues of CRH, desmopressin may be an alternative to CRH during IPSS.<p class="abstext...

Male, aged 6 years 3 months, recently moved from Peru, was admitted for suspected syndromic obesity. His medical history was unremarkable; no documented neonatal hypoglycemia or prolonged jaundice. Independent walking was achieved at 3 years and meaningful words at 2. Physical examination: height 99.2 cm (-3.57 SDS), -2.8 SDS below target height, BMI 27.43 kg/m2 (2.47 SDS); his weight has increased since the age of 4. Peculiar somatic characteristics were observed - saddle nos...

Female, 7-year-old, presented with a 6-months history of headaches and right ptosis, with a sudden worsening associated with projectile vomiting. Height 141 cm (2.67 SDS), weight 44.35 kg (1.98 SDS). She presented with enlarged hands and feet, diastema, broad nasal bridge, prominent nasal septum, low-set ears and coarse facial features. Brain MRI revealed a 22 × 25 × 40 mm pituitary mass with a suprasellar extension compressing the optic chiasm and invading the cav...

Background: There has been a secular increase in Precocious puberty in recent years. We have also seen an increase in referrals and confirmed cases of precocious puberty in our clinics. The suspected cased underwent a Gonadotrophin Releasing Hormone (GnRH) test (GnRH) The initiation of therapy is discussed with tertiary endocrinologist colleagues, but the treatment has been delivered locally. We have recently discussed with colleagues from pharmacy aspects rel...