ESPE Abstracts

Background: The neuroendocrine mechanisms of the initiation of puberty are still incompletely deciphered. Accumulating data indicate a main role of the glutamate system in regulating hypothalamic GnRH. However, the underlying neurobiological mechanisms are yet poorly investigated. Mice lacking metabotropic mGlu5 receptors (mGluR5) show sever unexplained infertility.Objective and hypotheses: We aimed in the present study to analyze the specific role of mG...

Background: Nutrition is an important factor to regulate reproductive function. Some studies showed that high fat diet (HFD) may influence to puberty onset and irregular estrous cycles in the female rats. However, underlying regulation mechanism of nutrition on pubertal maturation and reproductive function is not well-known. Kisspeptin and neurokinin B (NKB) are an essential factor for regulation of pubertal development.Objective and hypotheses: In this ...

Background: Emotional and behavioural problems are often used in support of GnRH agonists therapy in girls with early pubertal timing. However, there is little evidence to show that CPP leads to psychological distress and whether treatment is associated with improved psychological outcome.Objective and hypotheses: The objective of this qualitative study was to explore the psychosocial impact of ICPP in recently diagnosed girls.Meth...

Objective: To study the effect of orexin deficiency on metabolic and pubertal characteristics in narcoleptic children, we compared the metabolic and pubertal alterations between 15 children with narcolepsy with cataplexy (NC) and 15 control children matched for age, body mass index (BMI) z score.Method: Narcoleptic data were collected from the Reference Center for Narcolepsy and control common obese data from the department of pediatric endocrinology in ...

Background: Loss-of-function mutations in the imprinted gene MKRN3 represent the most common known genetic defects associated with central precocious puberty (CPP). The penetrance of these mutations remains to be established. To date, all reported individuals with MKRN3 mutations were already in puberty or postpubertal and were identified retrospectively.Objective and hypotheses: To report the first case of a prepubertal child with an MKRN3 muta...

Background: In girls with central precious puberty (CPP), the hypothalamic-pituitary-gonadal axis is prematurely activated. If the girl is treated with GnRH agonist (GnRH-a), gonadotropins levels become suppressed.Objective and hypotheses: We aimed to evaluate whether serum antimu llerian hormone (AMH) and inhibin B levels are affected in girls with CPP and whether pituitary suppression by GnRH-a affects serum AMH and inhibin B levels.<p class="abste...

Background: Heterozygous loss-of-function mutations of FGFR1 are known to cause Kallmann syndrome (KS) and isolated hypogonadotropic hypogonadism (IHH). Furthermore, recent studies have also indicated that heterozygous loss-of-function mutations lead to IHH and split hand/foot malformation (SHFM).Objective and hypotheses: The objective of this study was to examine FGFR1 in three Japanese patients with IHH and SHFM.Method: ...

Background: Congenital hypogonadotropic hypogonadism (HH) is a rare but clinically and genetically heterogeneous disease characterized by an absent or incomplete puberty and infertility. The association of HH with hyposmia or anosmia is defined as Kallmann syndrome. Molecular genetic testing of HH is valuable, as it can prompt the treatment in adolescence.Objective and hypotheses: To identify causative variants in genes associated with HH in a cohort of ...

Background: Central precocious puberty (CPP) results from premature activation of the hypothalamic-pituitary-gonadal axis and increasing evidence suggests a genetic origin. Premature activation of the GnRH secretion in CPP may arise either from gain-of-function mutations of the KISS1 and KISS1R genes or loss-of-function manner mutations of the MKRN3 gene leading to MKRN3 deficiency.Objective and hypotheses: To identify loss-of-...

Background: Precocious puberty has a complex and polygenic etiology. To describe genetic factors affecting onset and regulation of puberty and pathophysiology of precocious puberty, further studies are needed. Although, it is reported that ACTH receptor MC4R has impact on premature adrenarche, MC2R is expressed in the adrenal cortex and has a major role on the control of hypothalamo-pituitary-adrenal cortex. Melanocortin signaling system is reported to have l...

Background: Premature thelarche (PT) is a benign, non-progressive condition defined as isolated breast development without the activation of the hypothalamic-pituitary axis. While the pathophysiology of PT remains unclear, increased sensitivity to estrogen may cause PT.Objective and hypotheses: The aim of this study was to investigate the association between polymorphisms in the estrogen receptor alpha (ERα) gene and PT in girls.<p class="abstex...

Background: Leptin has a major role in the metabolic gating of pubertal maturation. Kisspeptin is an essential gatekeeper of puberty. Neurokinin B (NK B) is not widely known in the precocious puberty (PP) but it is coexpressed with kisspeptin in the arcuate nucleus and synchronizes the pulsatile secretion of kisspeptin.Objective and hypotheses: Leptin, kisspeptin, and NK B are influenced by energy balance and metabolic status has a clear impact on the ti...

Background: The Adrenocortical Neoplasm (ACN) is a rare condition in childhood (0,3 cases/1000000). In paediatric age, ACN at stage 1 is treated by complete adrenalectomy, while at stages 2 and 3 surgery is followed by adjuvant treatment with Mitotane (M). Chemotherapy is required in metastatic cases (stage 4).Objective and hypotheses: M is an adrenal cytotoxic agent which has both adrenolytic action on ACN cells and inhibition on steroid hormone synthes...

Background: Prolactinomas are rare in the prepubertal and adolescent age group. Therapeutic approaches are guided by experience from treating adults. Few series have been reported.Objective: Retrospective analysis of presenting features, treatment and outcomes in young patients presenting to a Tertiary Endocrine Service (total referral population ~3.5 million) managed jointly between Paediatric and Adult Endocrine and Neurosurgical services.<p class=...

Background: In boys with suspected delayed puberty, serum testosterone is used for the evaluation of gonadal function. It is known that early in puberty testosterone levels show a sleep wake rhythm, with nocturnal levels increasing ahead of daytime levels. To evaluate the onset of puberty, the use of salivary testosterone would be an appealing alternative to serum analysis as it is non-invasive and allows multiple nocturnal sampling. Moreover, it is thought that salivary testo...

Background: Ectopic posterior pituitary gland (EPP) is characterized by an abnormal pituitary stalk and hypoplasia of the anterior hypophysis. The genetic mechanisms involved in the development of EPP remain uncertain.Objective and hypotheses: The aim of this study is to determine whether mutations in the three genes, PROP-1, LHX2, and POU1F1, are associated with the risk for and the characteristics of EPP.Method: In the Endocrinol...

Background: Hypothalamic obesity (HyOb) is a rare form of treatment-resistant morbid obesity associated with congenital or acquired hypothalamic damage. Its pathophysiology has been attributed to hyperphagia and hyperinsulinaemia. The wider roles of oxytocin (OXT) in regulating appetite and weight have recently emerged in animal and human studies, but there is no human evidence that hypo-oxytocinaemia contributes to weight gain.Hypothesis: Hypo-oxytocina...

Background: Puberty is reported to be impaired in children with Sickle cell Anemia (SCA). Studies about this topic are rare in Sub-Saharan regionObjective and hypotheses: Assessment of pubertal development of children with SCA compared to healthy children in Mother and Child Center, CHANTAL BIYA Foundation.Method: We matched a group of 64 children with SCA (26 males, 38 females) with 94 healthy controls aged of 8–17 years old....

Background: Adolescents presenting with persistent gender dysphoria (GD) may undergo pubertal suspension via the use of GnRH analogues such as triptorelin (Gonapeptyl Depot) to allow further consideration of the dysphoria. Locally, a standard monthly dose of this drug is administered for an initial target duration of 12 months prior to re-assessment.Objective and hypotheses: The need to obtain full gonadotrophin and sex hormone suppression to ensure accu...

Background: Few studies have investigated the long-term effects of gonadotropin releasing hormone (GnRH) agonist treatment on reproductive function.Objective and hypotheses: We assessed ovarian function by analyzing serum anti-mullerian hormone (AMH) levels in central precocious puberty (CPP) girls according to GnRH agonist-treatment timing.Method: Our study included 505 CPP girls subdivided into five groups based on the timing of ...

Background: Septo-optic dysplasia (SOD) is a rare, congenital condition that mostly occurs sporadically, but can also be caused by mutations in HESX1, OTX2, SOX2, SOX3 genes. Symptoms of SOD include: optic nerve hypoplasia, hypopituitarism and midline brain abnormalities such as absence of septum pellucidum and/or corpus callosum. Hypopituitarism in SOD usually manifests as growth hormone deficiency followed by central hypothyroidism as well as deficiency of gonadotropines. Pr...

Background: Non functioning pituitary macro adenoma is rare during childhood. Therapeutic options are reduced to surgery and radiotherapy. Proton therapy is a particle therapy that uses a beam of protons to irradiate the tissue with the chief advantage that as a charged particle the dose is deposited over a narrow range and there is minimal exit dose.Objective and hypotheses: Proton therapy is largely used in France for paediatric craniopharyngiomas irra...

Background: An increasing need for non-invasive, out-patient based investigations has necessitated a re-evaluation of urinary gonadotrophins (uGn) for assessing puberty.Objective: Prospective evaluation of the relationship between first morning uGn measured by immunoassay and corrected for creatinine (uLH:uCr; uFSH:uCr), and basal serum gonadotropins (sLH, sFSH) and in response to LHRH stimulation test. Prospective evaluation of uGn trend in patients rec...

Background: Boys with delayed puberty represent one of the main cause for pediatric endocrine referrals. Although the majority of them have constitutional delay of growth and puberty (CDGP), it is important to identify isolated hypogonadotropic hypogonadism (IHH) for optimal management.Objective and hypotheses: The aim of the study was to evaluate the usefulness of inhibin B and AMH as biological markers for distinguishing between CDGP and IHH.<p cla...

Background: Craniopharyngioma is a benign, slow-growing epithelial tumor, in children it contributes to 5–10% of all brain tumors. Its incidence is 0.5-2 per 1,000,000 person-years. 30–50% of these tumors are recognized in childhood, most often in ages 5–14, no sex predilection is observed. It is located mainly in the sellar/parasellar region, in children adamantinomatous variant, with tendency to recur, is the most common type. Views on the usefulness of immuno...

Background: Delayed puberty (DP) is generally considered a benign condition. We investigated the diagnoses underlying DP and its outcome predictors.Objective: A retrospective chart review which included clinical and biochemical data of 174 boys and 70 girls evaluated for DP in a single tertiary care center between 2004 and 2014.Results: Thirty etiologies that underlie DP were identified. No markers of clinical value could be identi...

Background: GH treatment in severe GH deficiency during the transition period is a key matter.Objective and hypotheses: To assess the outcome of 30 severe GH deficient (GHD) patients after a structured transition program, in a French Universitary Hospital between 1988 and 2014.Method: 30 patients treated with GH until final height for congenital deficiency: 16/30 (12 ectopic posterior pituitary), brain tumors: 11/30 (5 Rathke’...

Background: The age of onset of puberty varies from country to another and, within every country, from one socioeconomic group to another. In Sub-Saharan Africa, particularly in Cameroon, there is paucity of data on this topic.Objective and hypotheses: To determine clinically meaningful normative reference data that describe the timing of sexual maturity indicators among Cameroonian children and to determine factors that influence the onset of this matur...

Background: Central diabetes insipidus (CDI) is caused by deficiency of antidiuretic hormone (ADH). Patients with CDI are at risk for fluid balance disturbances, especially when there is impaired thirst perception or inability to access water freely. Serum sodium measurement gives a good reflection of the actual fluid balance but is generally not available in the home situation. For patients in which CDI is difficult to manage sodium measurement at home may be a good instrumen...

Objective and hypotheses: The objective was to use whole-genome RNA profiling of testicular biopsies by DNA strand-specific RNA-sequencing to explore the causative role of isolated congenital cryptorchidism in azoospermia and/or infertility.Method: Fifteen cryptorchid patients, aged 7 months to 5 years, were enrolled in this study and underwent orchidopexy. During surgery, testicular tissue biopsies were collected and split in half for histological exami...

Background: Precocious puberty is defined as the onset of pubertal signs in girls younger than 8 years of age and in boys younger than 9 years of age. Central precocious puberty is due to an early activation of the hypothalamic-pituitary-gonadal axis. Different candidate genes were involved in the etiology of the disease. To date, mutations in the maternally imprinted gene MKRN3 are most frequently found in families with CPP.Objective and hypotheses: The...

Background: Measuring testicular volume (TV) by orchidometer is a standard method of pubertal staging in boys. A paucity of evidence exists as to its inter and intra-user reliability and the impact of clinicians’ gender, training and experience on the accuracy of measurements.Objective and hypotheses: We engineered prosthetic models of different size testes to investigate the reliability of TV estimation.Method: The study was ...

Background: Data on metabolic effects of gonadotropin-releasing hormone agonist (GnRHa) therapy are still controversial.Objective and hypotheses: To longitudinally evaluate the effect of GnRHa therapy on BMI, glycaemic metabolism and lipid profile in children affected by idiopathic central precocious puberty (CPP).Method: This longitudinal retrospective study included data from 42 children (7.70±0.80 years, 2 males) affected b...

Background: Premature thelarche is the isolated breast development in girls <8 years of age unaccompanied by other signs of puberty including advanced bone age or growth spurt. The GnRH stimulation test is used to distinguish between premature thelarche and central precocious puberty.Objective and hypotheses: We studied accuracy of the gonadotropin responses to GnRH stimulation in predicting pubertal progression in children diagnosed with premature t...

Background: β-hCG secreting germ-cell tumors (β-hCG-ST) are rare causes of Peripheral precocious puberty (PPP) in boys and usually located in intracranial region. Liver, retroperitoneum, testis and mediastinal cavity are the other localizations reflecting embryonic germ cell sites.Objective and hypotheses: We present a patient with PPP due to elevated β-hCG levels, but extensive efforts to find the source of elevated β-hCG was unrevea...

Background: Silent corticotroph adenomas are adenomas composed of corticotrophs but are different from corticotroph adenomas. Despite being silent, they show more aggressive behavior than other clinically nonfunctional adenomas. Adrenocortical choristomas in silent corticotroph adenomas (i.e. the presence of adrenocortical cells in the heterotopic location of the sella) were reported in three patients 16 years or older until now.Objective: Here we report...