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54th Annual ESPE

Barcelona, Spain
01 Oct 2015 - 03 Oct 2015

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Barcelona, Spain; 1-3 October 2015 Further information

hrp0084p3-984 | Gonads | ESPE2015

Management of Prepubertal Gynecomastia in Two Patients with Peutz-Jeghers Sydrome: Use of Aromatase Inhibitors

Guazzarotti Laura , Mauri Silvia , Occhipinti Federica , Petruzzi Mariangela , Sonnino Micol , Tenconi Andrea Angela , Pogliani Laura , Zuccotti Gian Vincenzo

Background: Peutz-Jeghers syndrome (PJS) is a rare autosomal-dominant disorder frequently caused by the serine-threonine-kinase-11(STK11) gene mutation and characterized by hamartomatous polyps throughout the gastrointestinal tract, mucocutaneous hyperpigmentation and predisposition to several malignancies. Rarely, PJS may be associated to an oestrogen producing large cell calcifying Sertoli cell tumour that may result in gynecomastia and increased growth velocity (GV).<p ...

hrp0084p3-985 | Gonads | ESPE2015

Age at Menarche in Chronic Respiratory Disease: Cystic Fibrosis and Asthma – Comparison with a Large Cohort of Healthy Girls Living in Verona

Gaudino Rossella , Volpi Sonia , Ben Sarah Dal , Piona Claudia , Cavarzere Paolo , Boner Attilio , Antoniazzi Franco

Background: Menarche is a milestone in human sexual development as it denotes the achievement of fertility. Few studies have evaluated the age at menarche (AAM) in chronic respiratory disease.Objective: The main aim of this study is to investigate AAM and menarcheal determinants in girls affected by Cystic Fibrosis or Asthma, and to compare their AAM with healthy girls’ one.Subjects and method: The study was conducted on 1207 ...

hrp0084p3-986 | Gonads | ESPE2015

Optimal Strategy for Ovarian Function Assessment in Girls with Central Precocious Puberty before and During GnRH Analogue Treatment

Freire Analia , Gryngarten Mirta , Arcari Andrea , Ballerini Maria , Loreti Nazareth , Ambao Veronica , Bergada Ignacio , Campo Stella , Ropelato Maria

Background: The degree of suppression of the pituitary-ovarian axis in girls with central precocious puberty (CPP) under GnRH analogue (GnRHa) treatment is usually assessed at pituitary levels. However, the extent of ovarian function suppression under GnRHa treatment has not been evaluated.Objective: To evaluate ovarian activity in CPP girls before and during treatment with GnRHa.Patients and methods: In this prospective study, 11 ...

hrp0084p3-987 | Gonads | ESPE2015

From Prepuberty to Adulthood: Semen Quality and Its Predictors in a Prospective Cohort Study of Russian Young Men

Sergeyev Oleg , Minguez-Alarcon Lidia , Hauser Russ , Williams Paige L , Burns Jane S , Korrick Susan A , Dikov Yury , Smigulina Liudmila , Revich Boris , Lee Mary M

Background: We are not aware of other longitudinal cohort studies of boys with annual assessments of pubertal development and long term follow-up to adulthood to evaluate semen quality.Objective: To describe semen quality and investigate its predictors in a longitudinal cohort study of Russian boys followed from prepuberty until adulthood.Design and methods: From 2003 to 2005, 516 prepubertal 8–9-year-old boys were enrolled (8...

hrp0084p3-988 | Gonads | ESPE2015

Further Expansion of the CHARGE Geno-Phenotype: A Girl with a Novel Deletion of CHD7 and with the Combination of Hypogonadotropic Hypogonadism and Agenesis of Internal Genitalia

Reynaert Nele , de Zegher Francis , Devriendt Koenraad , Francois Inge , Beckers Dominique , Casteels Kristina

Background: CHARGE syndrome is a variable entity. Clinical diagnosis is based on the Blake-Verloes criteria and can be confirmed by identifying a mutation in CHD7. Hypoplasia of the genitalia is a common feature and is most often attributable to hypogonadotropic hypogonadism which is described in 81% of the males and 93% of the female patients. Other genital anomalies are rare. Combined agenesis of the uterus and ovaries is so far only reported in one patient with sus...

hrp0084p3-989 | Gonads | ESPE2015

Metabolism and Gonadal Axis of Early Menarche Girls and Girls Treated with GnRHa During Puberty

Qiuli Chen , Jun Zhang , Yanhong Li , Huamei Ma , Hongshan Chen , Song Guo , Minlian Du

Background: Early menarche may be associated with diabetes, metabolic syndrome, cardiovascular disease and oligomenorrhoea in adults. While the state of metabolism and gonadal axis of early menarche girls and girls who treated with Gonadotropin-releasing hormone analogues (GnRHa) during puberty was not so clear.Objective and hypotheses: We assessed in a retrospective unicentre study the state of metabolism and gonadal axis of early menarche girls and gir...

hrp0084p3-990 | Gonads | ESPE2015

The Consequences of Polycystic Ovary Syndrome in Adolescent Girls

Brad Giorgiana Flavia , Marcovici Tamara , Belei Oana , Popoiu Calin , Olariu Laura , David Vlad , Marginean Otilia

Background: Polycystic ovary syndrome (PCOS) represents one of the most common complains for adolescent girls to present to endocrinologist. PCOS has the potential to affect the young person both metabolically, physically, psychologically and socially.Objective: To evaluate the metabolic and psychological consequences of PCOS in adolescent girls.Method: Adolescent girls admitted in the Endocrinology Department of Children Emergency...

hrp0084p3-991 | Gonads | ESPE2015

Pelvic MRI as Alternative to Pelvic us for the Diagnosis of PCOS in Overweight and Obese Adolescent Girls

Kayemba-Kay Simon , Heron Anne , Benosman Sidi Mohamed

Background: Polycystic ovary syndrome (PCOS) is a common reproductive endocrinopathy in women of childbearing age, affecting 5–10% women in this age group. Its suggestive cardinal features are hyperandrogenism, ovulatory dysfunction and/or polycystic ovary appearance. The diagnostic gold standard tool is pelvic ultrasound (PUS) which may be limited in overweight and obese adolescent girls.Objective and hypotheses: To evaluate the contribution of pel...

hrp0084p3-992 | Gonads | ESPE2015

Syndromic X-Linked Ichthyosis

Leyla Rabehi , Said Azzoug , Farida Chentli

Introduction: X-linked ichthyosis is an inherited disorder of keratinization due to steroid sulfatase deficiency. It may be part of a contiguous gene syndrome characterized by the presence of several clinical features including hypogonadism, Leri-Weill syndrome, short stature, chondrodysplasia punctata, mental retardation, epilepsy, Dandy-Walker malformation and ocular albinism. It is due to microdeletions of Xp22.3. We report observations of two siblings with syndromic x-link...

hrp0084p3-993 | Gonads | ESPE2015

The Effect of Aromatase Inhibitor in a Pubertal Patient with Aromatase Excess Syndrome

Shihara Daziou , Sato Hidetoshi , Ogawa Yohei , Miyado Mami , Fukami Maki

Background: Aromatase excess syndrome (AEXS) is a rare autosomal dominant disorder caused by the overexpression of CYP19A1 at 15q21. Patients with AEXS manifest various clinical features associated with oestrogen excess; gynecomastia, hypogonadotropic hypogonadism, and advanced bone age are the most salient features in this condition.Objective and hypotheses: The primordial treatment of the gynecomastia in patients with AEXS is surgical mastecto...

hrp0084p3-994 | Gonads | ESPE2015

Homozygous CYP17A1 Mutation Identified in a Chinese Family with 46, XX and 46, XY 17α-Hydroxylase Deficiency

Ma Huamei , Du Minlian , Zhang Jun , Li Yanhong , Chen Qiuli , Chen Hongshan

Background: Congenital adrenal hyperplasia due to 17α-hydroxylase deficiency is a rare autosomal recessive disorder, characterized by sexual infantilism, amenorrhoea, hypertension and hypokalemia,which is caused by CYP17A1 gene mutations.Objective and hypotheses: To provide a descriptive analysis of 17α-hydroxylase deficiency in two female siblings with different karyotype of 46, XX and 46, XY.Method: The clinical feature...

hrp0084p3-995 | Gonads | ESPE2015

Puberty and Gonadal Function in Adolescents Girls after Renal Transplantation

Hecquet Blandine , Charbit Marina , Polak Michel , Bidet Maud

Background: Renal transplantation (RTx) is the most common solid organ transplant procedure. Several studies have reported on puberty and gonadal function in female RTx recipients with controversial results.Objective: We sought to describe puberty and gonadal function in adolescents after RTx before 16 years.Methods: We reported retrospectively the clinical signs of puberty, growth, medication and graft function of 20 girls aged 19...

hrp0084p3-996 | Gonads | ESPE2015

Endocrine Disruptor and Premature Puberty, is There Any Association?

Riano-Galan Isolina , Menendez Adrian Estrada , Lopez Ana Perez , Fuente Mar Coto , Moran Margot , Rodriguez-Dehli Cristina

Background: Endocrine disruptors (ED) can alter endocrine function. ED have become a part of everyday life and are found among phytoestrogens, active ingredients in pharmaceuticals, and additives or contaminants in food, personal care products, cosmetics, plastics and textiles.Objective: To describe cases of children with signs of early puberty who are exposed to ED.Method: Observational study of patients affected of premature pube...

hrp0084p3-997 | Gonads | ESPE2015

Abstract withdrawn....

hrp0084p3-998 | Gonads | ESPE2015

The Changes of Body Fat and Metabolic Parameters During GnRHa Treatment in Central Precocious Puberty or Early and Fast Puberty Girls

Qiuli Chen , Huamei Ma , Lijuan Li , Jun Zhang , Yanhong Li , Hongshan Chen , Minlian Du , Song Guo

Background: Oestrogen has positive effect to glucose and lipid metabolism. On the contrary, leptin has negative effect to metabolism. During GnRHa treatment, the secretion of oestrogen was suppressed and its effect will fade away.Objective and hypotheses: To observe the changes of body fat and metabolic parameters of central precocious puberty (CPP) or early and fast puberty (EFP) girls who treated with Gonadotropin-releasing hormone analogues (GnRHa).</...

hrp0084p3-999 | Gonads | ESPE2015

Sertoli Cell Tumour in a Case of Androgen Insensitivity Syndrome

Erdeve Senay Savas , Aycan Zehra , Keskin Meliksah , Cetinkaya Semra , Karaman Ayse , Apaydin Sema , Cakmakci Emin

Introduction: Complete androgen insensitivity syndrome (CAIS) is a sexual development disorder due to mutations that cause function loss in androgen receptors in 46, XY individuals. The risk of malignancy development until the age of 25 years in CAIS is 5–10%. We present a CAIS case where a Sertoli cell tumour was found, together with the USG and MR findings.Case: A 17-year-old female presented to our department complaining of amenorrhoea. She had a...

hrp0084p3-1000 | Gonads | ESPE2015

Final Height of Children with SGA Treated with Biosynthetic GH: About a Series of 30 Children

Fedala Soumeya Nora , Haddam Ali El Mahdi , Ali Leyla Ahmed , Meskine Djamila , Chentli Farida

Background: Small gestational age (SGA) is defined by a small size and/or a birth weight <−2 DS/standards for the term of pregnancy. Most of these children catch up to their size in the first 2 years of life. Only 10% of them will stay with a size of <−2 DS. These children may benefit from treatment with GH, which improves their stature prognosis.Objective and hypotheses: Study the final height of children with IUGR have reached adult...

hrp0084p3-1001 | Gonads | ESPE2015

Anti-Müllerian Hormone is a Useful Marker of Gonadotoxicity in Girls Treated for Cancer: A Prospective Study

Miyoshi Yoko , Yasuda Kie , Miyamura Takako , Miyashita Emiko , Hashii Yoshiko , Ozono Keiichi

Background: Gonadal dysfunction is one of the major endocrinological late effects among cancer survivors. Chemotherapeutic agents and radiation are so gonadotoxic that ovarian reserve diminishes. Measurement of anti-müllerian hormone (AMH) concentration is useful as a marker of ovarian reserve or gonadal deficiency in female childhood cancer survivors (CCSs), particularly among patients without high gonadotropin levels.Objective and hypotheses: The ...

hrp0084p3-1002 | Gonads | ESPE2015

Leydig-Cell Tumour, a Rare Cause of LH-Independent Sexual Precocity in Boys

Gerard Maxime , Thomas-Teinturier Cecile , Bouvattier Claire , Mantel Anne , De Lambert Guenolee , Beaudoin Sylvie , Mussini Charlotte , Pierre Bougneres

Background: Leydig-cell tumours in children are rare, comprising only 4 to 9% of all primary testis tumours in prepubertal males. These boys present with isosexual precocious pseudopuberty characterized by increased testosterone and low gonadotropin levels. We describe two cases and will discuss differential diagnosis and pathogenesis.Case 1: C. was first referred at 8 years old for pubertal development with accelerated growth since 4 years of age. His v...

hrp0084p3-1003 | Gonads | ESPE2015

Antimullerian Hormone and Inhibin B Markers of the Ovarian Reserve After Ovariectomy

Morandi Grazia , Piona Claudia Anita , Ben Sarah Dal , Ramaroli Diego , Cavarzere Paolo , Antoniazzi Franco , Gaudino Rossella

Background: Ovarian reserve is defined as the functional potential of the ovary, which reflects the number and quality of the follicles left in the ovary at any given time. In literature there studies about the evaluation of ovarian reserve after ovariectomy for tumors and cysts, using serum markers, such as inhibin-B, and anti-Mullerian hormone (AMH), combined to ultrasonographic markers, in adult women but none in peri-pubertal girls.Case presentation:...

hrp0084p3-1004 | Gonads | ESPE2015

Girl with Pendred’s Syndrome, Breast and Ovary Cysts (Clinical Case)

Gumeniuk Olga , Chernenkov Yuriy

Background: Pendred’s syndrome (Pendred’s disease) is a genetic disorder leading to congenital bilateral sensorineural hearing loss and goitre with occasional hypothyroidism. Cause of Pendred’s syndrome is mutations in the SLC26A4 gene. The SLC26A4 gene provides instructions for making a protein called pendrin. The pendrin transports negatively charged ions (chloride, iodide, and bicarbonate) into and out of cells.Objective and hypotheses:...

hrp0084p3-1005 | Gonads | ESPE2015

Incidence and Etiology of Hyperandrogenism in Children and Adolescent

Mahdi Haddam Ali El , Hafsa Si Youcef , Radhia Si Youcef , Djamila Meskine

Background: The hyperandrogenism in the teenager is a frequent reason for consultation. It poses diagnostic problems and sometimes therapeutic ones.Objective and hypotheses: Search of the incidence and aetiology of hyperandrogenism in children and adolescent.Method: This is a retrospective study of patients hospitalized for exploration of hyperandrogenism. 14 patients was for collected, all underwent to a profound clinical examinat...

hrp0084p3-1006 | Gonads | ESPE2015

Early and Sever Manifestation of McCune-Albright Syndrome with GNAS Mutation in the Liver Tissue

Aljuraibah Fahad , Alohali Wael , Albalawi Mohammed , Almutair Angham

Background: McCune-albright syndrome is clasiically defined by the clinical triad of fibroud dysplasia of bone (FD), café-au-lait spots and precocious puberty. It is a rare disease with variable presentation caused by somatic (non-germline) gain of function mutation in GNAS gene. It can affects both endocrine and non-endocrine tissue. In addition to precocious puberty, other hyperfunctioning endocrinopathies may be involved including hyperthyroidism, growth excess, cushin...