Volume 82 | ESPE2014 | Next issue

ESPE 2014

Dublin, Ireland
18 Sep 2014 - 20 Sep 2014

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Dublin, Ireland; 18-20 September 2014. Further information

Poster Category 2

Puberty and Neuroendocrinology (2)

hrp0082p2-d3-553 | Puberty and Neuroendocrinology (2) | ESPE2014

Inhibin B in the Diagnosis of Delayed Puberty

Procopiuc Camelia , Gherlan Iuliana , Dumitrescu Cristina , Brehar Andreea , Vladoiu Suzana , Procopiuc Livia , Caragheorgheopol Andra

Background: Existing tests are not 100% accurate in differentiating between isolated hypogonadotropic hypogonadism (HH) and constitutional delay of puberty (CDP) in boys. Inhibin B is a glycoprotein produced by the Sertoli cells and is measurable even before puberty. Its level increases at the beginning of puberty under the influence of FSH.Objective and hypotheses: The levels of inhibin B (InhB) could differentiate between HH and CDP. We aimed to establ...

hrp0082p2-d3-554 | Puberty and Neuroendocrinology (2) | ESPE2014

Predominantly Matrilineal Inheritance of Familial Precocious Puberty Suggests an Underlying Imprint Anomaly

Durand Adelaide , Brauner Raja , Bashamboo Anu , McElreavey Ken

Background: The age of onset of puberty is known to be influenced by poorly understood genetic and environmental factors. Familial forms of precocious puberty suggest the involvement of autosomal genetic factors.Objective and hypotheses: We evaluated the mode of inheritance of precocious puberty in a large series of familial cases of both central precocious puberty (CPP) and advanced puberty.Method: A retrospective, single-centre s...

hrp0082p2-d3-555 | Puberty and Neuroendocrinology (2) | ESPE2014

Tamoxifen-Induced Hirsutism: an Unusual Side Effect in a 5 Years Old Girl with Mccune–Albright Syndrome

Kirmizibekmez Heves , Mutlu Rahime Gul Yesiltepe , Dursun Fatma , Isguven Sukriye Pinar

Background: McCune–Albright syndrome is a rare disorder defined as the triad of peripheral precocious puberty, café-au-lait skin pigmentation and fibrous dysplasia of bone, caused by mutation of the gene GNAS1, resulting in autonomous endocrine hormone excess.Objective and hypotheses: This is the first pediatric case of hirsutism due to tamoxifen, a selective estrogen receptor modulator.Case report: A 53/12 yea...

hrp0082p2-d3-556 | Puberty and Neuroendocrinology (2) | ESPE2014

Long Term Outcomes of Precocious Puberty due to Hypothalamic Hamartomas

Rodrigue Danielle , Thomas-Teinturier Cecile , Motte-Signoret Emmanuelle , Bougneres Pierre , Linglart Agnes

Background: Hypothamamic hamartomas (HH) are rare benign tumours of the tuber cinereum revealed by central precocious puberty (CPP) and, in some cases, gelastic seizures and cognitive impairment.Objective and hypotheses: Evaluation of the treament by GnRH analogues on control of puberty and final height in patients with HH.Method: We report a series of five cases of CPP secondary to HH (four girls and one boy). Early in infancy (9 ...

hrp0082p2-d3-557 | Puberty and Neuroendocrinology (2) | ESPE2014

Mutational Analysis of TAC and TACR3 in Idiopathic Central Precocious Puberty

Krstevska-Konstantinova Marina , Jovanovska Jana , Slaveska Nevenka , Tasik Velibor , Montenegro Luciana Ribeiro , Beneduzzi Daiane , Silveira Leticia Gontijo , Gucev Zoran

Background: The genetic background of idiopathic central precocious puberty (ICPP) is not well understood. The genetic activation of pubertal onset is thought to arise from the effect of multiple genes. Familial ICPP have been reported suggesting the existence of monogenic causes of ICPP. The neurokinin B (NKB) system has recently been implicated in the regulation of the human reproductive axis, but how NKB system exerts its effects on the central neuroendocrine control of hum...

hrp0082p2-d3-558 | Puberty and Neuroendocrinology (2) | ESPE2014

Pituitary–Ovarian Axis in Patients with Isolated Premature Thelarche

Wikiera Beata , Nocon-Bohusz Julita , Basiak Aleksander , Bieniasz Jolanta , Glab Ewa , Noczynska Anna

Background: Isolated premature thelarche (IPT) is characterised by precocious breast development without any other signs of puberty.Objective and hypotheses: The aim of the study was to analyze hormonal activity of the pituitary – ovarian axis in girls with IPT.Method: 102 girls with IPT (Tanner stage 2–3), mean age 2±1.4 years (0.04–7 years), mean weight 12.3±4.3 kg, mean height 85.0±13.6 cm (45±...

hrp0082p2-d3-559 | Puberty and Neuroendocrinology (2) | ESPE2014

The Buserelin Stimulation Test Given as an Intranasal Spray in Diagnosing Gonadotropin Deficiency in Males with Delayed Puberty

Rakhimova Gulnara , Gilyazetdinov Kamil

Background: Because of episodic secretion of gonadotropins (LH, and FSH), basal levels of these hormones can not objectively be assessed to differentiate delayed puberty in males.Objective and hypotheses: To assess the efficacy of the GnRH agonist (as spray) in diagnosing of delayed puberty in males.Method: Prepubertal males (n=18; age range 13.3–18.5 years) were studied; buserelin 0.15 (spray) μg was administere...

hrp0082p2-d3-560 | Puberty and Neuroendocrinology (2) | ESPE2014

Adult Height Outcome of Girls with Idiopathic Central Precocious Puberty Treated with GnRH Analogs is Irrespective of BMI

Aversa Tommaso , Valenzise Mariella , Wasniewska Malgorzata , Messina Maria Francesca , Santisi Alessandra , De Luca Filippo

Background: GnRH analogs (GnRHa) have been used in treatment of idiopathic central precocious puberty (ICPP) for several decades. Their effectiveness on adult height (AH) improvement has been widely studied and is still debated.Objective and hypotheses: To assess whether BMI changes in ICPP girls during GnRHa treatment can influence AH.Method: A retrospective study of 131 ICPP girls (mean age at diagnosis: 7.6±0.7, range 4.3&#...

hrp0082p2-d3-561 | Puberty and Neuroendocrinology (2) | ESPE2014

Delayed Puberty: Between Chronopathology and Subclinical Pathology

Procopiuc Camelia , Dumitrescu Cristina , Gherlan Iuliana , Brehar Andreea , Costache Mariana , Procopiuc Livia , Caragheorgheopol Andra

Background: At 14 years of age for boys and 13 years for girls, delayed puberty with low gonadotropic hormones can either be a chronopathologic feature (constitutional delay of puberty – CDP) or the subclinical unmasking of a future isolated hypogonadotropic hypogonadism (IHH). The two conditions are difficult to differentiate at these specific ages.Objective and hypotheses: We aimed to identify clinical and paraclinical features which correlate wit...

hrp0082p2-d3-562 | Puberty and Neuroendocrinology (2) | ESPE2014

Central Precocious Puberty as the Initial Manifestation of a Pilocytic Astrocytoma with Leptomeningeal Dissemination Simulating a Hypothalamic Dysgerminoma

Galo Blanca Lidia , Fernandez Diego Yeste , Campos Ariadna , Clemente Maria , Carrascosa Antonio , Llort Anna

Introduction: Pilocytic astrocytoma is the most common type of CNS astrocytoma in children. Clinical manifestations depend on its location and size and initial symptoms are usually related to neurological deficits or signs and symptoms of intracranial hypertension. Involvement of the hypothalamic area, pituitary infundibulum and leptomeningeal spread are exceptional. The case of a patient with central precocious puberty in whom the initial neuroimaging study oriented the diagn...

hrp0082p2-d3-563 | Puberty and Neuroendocrinology (2) | ESPE2014

Endocrine Abnormalities in Phosphoglucomutase 1 Deficiency

Mueksch Barbara , Morava Eva , Lefeber Dirk , Claahsen-van der Grinten Hedi , Korsch Eckhard

Introduction: Phosphoglucomutase 1 catalyzes the interconversion of glucose-6-phosphate and glucose-1-phosphate. Phosphoglucomutase 1 deficiency (PGM1-CDG), previously termed glycogenosis type XIV (OMIM 612934), is a rare variant of the congenital disorders of glycolysation (CDG), resulting in abnormal attachment and processing of protein linked N-glycans. We present a girl with PGM1-CDG and delayed pubertal development and review the endocrine findings of the few pat...