ESPE Abstracts

The activation of the hypothalamic-pituitary-gonadal (HPG) axis during the first six months of life in boys marks the period of “mini-puberty”. It is characterized by a surge of gonadotropins, testosterone, and an increase of Sertoli cells and germ cells, crucial for future reproductive capacity. Boys with severe congenital hypogonadotropic hypogonadism (CHH) often present with undescended testes and micropenis and lack mini-puberty, leading to impaired responses t...

Background: The initiation of puberty is dependent upon an augmentation of gonadotropin-releasing hormone (GnRH) secretion from the hypothalamus. Development of the GnRH neuroendocrine network in embryonic life depends on coordinated migration of neurons from the vomeronasal organ in the nose to the forebrain. We have previously demonstrated that dysregulation in GnRH neuronal migration leads to delayed pubertal onset. Late puberty affects up to 2% of the ...

Introduction: Age at pubertal onset is a markedly inherited trait. The most common cause of pubertal delay, self-limited pubertal delay, is defined by the absence of secondary sexual characteristics after 13 years in girls and 14 years in boys, with progression before age 18. This study aimed to detect novel candidate genes for self-limited pubertal delay.Methods: Eighty-one patients with confirmed self-limited delayed p...

Introduction: Pathogenic MC4R gene variants result in hyperphagia and early onset obesity, but puberty is not usually affected. A 16-year-old male with repaired Tetralogy of Fallot, anosmia, autism, and anxiety, was referred with delayed puberty. Height was -1.31 SDS, BMI 30.7 kg/m2. He had high-arched palate, normal skin and hair colour, mild hypertelorism, Tanner stage A2P1G1, 5ml testes.Results: Gn...

Background: Timing of puberty is associated with height, cardiovascular health and cancer risk, with a significant public health impact. Previous studies estimate that 60–80% of variation in the timing of pubertal onset is genetically determined. Self-limited delayed puberty (DP) often segregates in an autosomal dominant pattern, but the underlying genetic background is unknown.Methods: We performed whole exome sequencing in 52 members of 7 families...

Innervation of the hypothalamic median eminence by Gonadotropin-Releasing Hormone (GnRH) neurons is vital to ensure puberty onset and successful reproduction. However, the molecular and cellular mechanisms underlying median eminence development and pubertal timing are incompletely understood. Here we show that Semaphorin-6A is strongly expressed by median eminence-resident oligodendrocytes positioned adjacent to GnRH neuron projections and fenestrated capillaries, and that Sem...

Background: Hypogonadotropic hypogonadism, a condition of central hypogonadism secondary to deficiency of gonadotropin releasing hormone and/or gonadotropins, is a rare disease affecting approximately 1 in 5000-15,000. A key step in improving understanding of best practice in this condition is the collection of geographically widespread data. Standardised and accessible international data collection can facilitate this, with implementation of established proto...

Introduction: Congenital hypothyroidism (CH) is the most common congenital endocrine disorder in childhood and is one of the most common preventable causes of mental retardation. Thyroid hormones (TH) are essential for normal development of auditory system. Deficiency of TH during fetal and early postnatal sensitive periods of ear development, results in various degree of congenital hearing impairments or even in deafness if TH substitution is not instituted within a critical ...

Background: Functioning gonadotroph adenomas (FGAs) are very rare gonadotropin-secreting pituitary adenomas. Clinically, FGAs present only with mass effects. Nevertheless, central precocious puberty (CPP) has also been reported. Published data have demonstrated controversial opinions on the use of GnRH agonists in these patients, considering the risk of increase in tumor size and stimulating gonadotropin secretion. We herein report 3 cases diagnosed with CPP d...

Case presentation: We report a five -year-old girl who presented for evaluation of obesity, abdominal distension, vaginal bleeding for two days, and abdominal distention. There was no history of local trauma or vaginal discharge associated with the vaginal bleeding and no suspicion of abuse. There was no purpura or bleeding from other sites. Her HtSDS = -1.3 SD and BMI SDS = + 1.5 SD. A large abdominal mass was palpable. There was no hepatomegaly, splenomegaly or lymphadenopat...