hrp0098p1-175 | Pituitary, Neuroendocrinology and Puberty 2 | ESPE2024

Current Practice of Managing Hypogonadotropic Hypogonadism in Male Infants during Minipuberty – an International Survey

Laurer Elisabeth , Rohayem Julia , Heger Sabine , Hoegler Wolfgang , Castro Sebastian , Rey Rodolfo , Nordenström Anna , Howard Sasha

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...

hrp0092fc8.5 | Pituitary, Neuroendocrinology and Puberty Session 1 | ESPE2019

LGR4-Wnt β-Catenin Signalling Directs GnRH Network Development, with Defects Leading to Self-Limited Delayed Puberty

Mancini Alessandra , Howard Sasha R. , Cabrera Claudia P. , Barnes Michael R. , David Alessia , Wehkalampi Karoliina , Vassart Gilbert , Cariboni Anna , Garcia Marie Isabelle , Guasti Leonardo , Dunkel Leo

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 ...

hrp0097fc13.1 | Pituitary, neuroendocrinology and puberty 2 | ESPE2023

Genetic evaluation in children with self-limited pubertal delay discloses new candidate genes

Rezende Raissa , Schafer Evan , Kaisinger Lena , He Wen , Andrade Nathalia , Dantas Naiara , Cellin Laurana , Quedas Elisangela , Perry John , Howard Sasha , Claudia Latronico Ana , Chan Yee-Ming , Jorge Alexander

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...

hrp0098p1-190 | Pituitary, Neuroendocrinology and Puberty 3 | ESPE2024

The first description of an MC4R variant in a patient with Kallmann syndrome and obesity

A Aslam Aisha , Lim Sharon , H Willemsen Ruben , Koysombat Kanyada , Young Megan , Singh Dhillo Waljit , Abbara Ali , R Howard Sasha , F Gevers Evelien

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...

hrp0084ha1 | Mutations in IGSF10 cause Self-limited Delayed Puberty, via Effects on GnRH Neuronal Migration | ESPE2015

Mutations in IGSF10 cause Self-limited Delayed Puberty, via Effects on GnRH Neuronal Migration

Howard Sasha , Guasti Leonardo , Mancini Alessandra , David Alessia , Storr Helen , Metherell Louise , Sternberg Michael , Cabrera Claudia , Warren Helen , Barnes Michael , Wehkalampi Karoliina , Andre Valentina , Gothilf Yoav , Cariboni Anna , Dunkel Leo

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...

hrp0097s12.2 | What's new for the HPG Axis | ESPE2023

SEMA6A drives GnRH neuron-dependent puberty onset by tuning median eminence vascular permeability

Cariboni Anna , Oleari Roberto , Lettieri Antonella , van den Munkhof Marleen , van Battum Eljo , Tacconi Carlotta , Spreafico Marco , Paganoni Alyssa , Amoruso Federica , Eberini Ivano , Dunkel Leonard , Fantin Alessandro , Howard Sasha , Pasterkamp Jeroen

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...

hrp0098p1-174 | Pituitary, Neuroendocrinology and Puberty 2 | ESPE2024

International Practice in Management of Puberty for Patients with Hypogonadotropic Hypogonadism

Castro Sebastian , Rohayem Julia , Varughese Rachel , Bonomi Marco , Butler Gary , Candler Toby , Cole Tim , Dattani Mehul , Heger Sabine , Jayasena Channa , Krone Nils , Nordenstrom Anna , Senniappan Senthil , Wood Claire , Bryce Jillian , Ahmed Faisal , Howard Sasha

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...

hrp0089p2-p410 | Thyroid P2 | ESPE2018

Study of Hearing Function in Children with Congenital Hypothyroidism Attending Alexandria University Children’s Hospital

Elsayed Shaymaa , Wafa Ehsan , Elmoazen Doaa , Elsayed Haidy

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 ...

hrp0095p2-245 | Pituitary, Neuroendocrinology and Puberty | ESPE2022

To give or not to give GnRH agonists in central precocious puberty due to pituitary microadenoma?

Abdelmeguid Yasmine , Elsayed Shaymaa , Raafat Shaymaa

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...

hrp0094p2-335 | Multisystem endocrine disorders | ESPE2021

Obesity, vaginal bleeding and ovarian mass in a 5-year-old female girl with autoimmune hypothyroidism

Elsayed Shaymaa , Soliman Ashraf , Elawwa Ahmed ,

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...