Scientific Programme & Abstracts from the International Meeting in Pediatric Endocrinology (IMPE)
Volume 96 | IMPE2023

IMPE 2023

Buenos Aires, Argentina
04 Mar 2023 - 07 Mar 2023

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11th International Meeting of Pediatric Endocrinology (IMPE 2023). 4 -7 March 2023 - Buenos Aires, Argentina.

Free Communications

Endocrinology of Sex Differences 1

impe0096fc3.1 | Endocrinology of Sex Differences 1 | IMPE2023

Characterization and follow-up of a cohort of thirty patients with 46,XX testicular/ovotesticular disorders of sexual development

Celeste Mattone María , Berensztein Esperanza , Marino Roxana , Sol Touzón María , Marcela Bailez María , Nielsen Vanina , Weller Santiago , Laura Galluzzo Mutti María , Manuel Lazzati Juan , Belén Martinez María , Bulgach Valeria , César Ramírez Pablo , Pérez Garrido Natalia , Ciaccio Marta , Belgorosky Alicia , Guercio Gabriela , Costanzo Mariana

Background: 46,XX testicular/ovotesticular disorders of sexual development (T/OT DSD) are infrequent congenital conditions characterized by the presence of functional ovarian and testicular parenchyma or only testicular tissue in 46,XX individuals. Affected subjects present with different degrees of virilization of the external genitalia and development of Müllerian and Wolffian derivatives. Our knowledge about these conditions has been enlightened with t...

impe0096fc3.2 | Endocrinology of Sex Differences 1 | IMPE2023

Microdeletion within ESR1 constitutes a worldwide spread susceptibility factor for the development of undermasculinized genitalia

Ogata Tsutomu , Masunaga Yohei , Fujisawa Yasuko , Fukami Maki , Spinelli Claudio , Massart Francesco

Introduction: We have previously reported strong association of cryptorchidism (CO) and hypospadias (HS) with a specific "AGATC" haplotype within a > 34 kb tight linkage disequilibrium (LD) block spanning five SNPs designated SNPs10–14 in the 3' region of ESR1 (JCEM 2006; Hum Reprod 208). Here, we report that a microdeletion (DESR1) identified from the specific haplotype constitutes a widely spread susceptibility factor for the...

impe0096fc3.3 | Endocrinology of Sex Differences 1 | IMPE2023

DSD Interpreter, a mobile application-based tool for Point of Care evaluation of Atypical Genitalia.

Raithatha Dhvani , Yadav Vibha , Agarwal Manoj , Banerjee Sayan , Shukla Rishi , Bajpai Anurag

Background: Atypical genitalia represents an important medical and social emergency. Timely evaluation of children with atypical genitalia is central to reducing morbidity, mortality, and familial anxiety. Lack of training in Pediatric Endocrinology and restricted access to Pediatric Endocrinologists makes developing tools for point-of-care guidance for children with atypical genitalia desirable. Objective: To develop an...

impe0096fc3.4 | Endocrinology of Sex Differences 1 | IMPE2023

The combination of FSH and markers of Sertoli cell function provides a high accuracy strategy to differentiate central hypogonadism from constitutional delay of puberty in boys: a longitudinal prospective study.

Castro Sebastián , Correa Brito Lourdes , Bedecarrás Patricia , Gabriela Ropelato María , Keselman Ana , Cassorla Fernando , Bergadá Ignacio , A Rey Rodolfo , P Grinspon Romina

Constitutional delay of puberty (CDP) and congenital central hypogonadism (CH) show great overlap in clinical features and in gonadotrophin and testosterone serum concentrations in boys. The gold standard to distinguish both entities relies on the assessment of pubertal stage beyond 18 years of age. The long lasting insufficient FSH activity in boys with congenital CH may result in lower AMH and inhibin B serum concentrations compared with boys with CDP....