hrp0082p3-d3-942 | Puberty and Neuroendocrinology (1) | ESPE2014

A Severe LHRH-Independent Precocious Puberty in a 26-Month-Old Girl with a Clinical Diagnosis of McCune–Albright Syndrome

Flader Maciej , Latos-Bielenska Anna , Kapczuk Karina , Mankowski Przemyslaw , Malecka Elzbieta , Niedziela Marek

Background: Gonadal hyperfunction is the most frequent endocrine dysfunction in females with McCune–Albright syndrome (MAS), and precocious puberty (PP) is usually the first manifestation of MAS in children.Objective and hypotheses: The optimal pharmacologic treatment of PP in girls with MAS has not been yet identified and new therapeutic options like anti-estrogen should be taken under consideration especially in patients with extreme high estradio...

hrp0095p1-344 | Pituitary, Neuroendocrinology and Puberty | ESPE2022

Puberty patterns in boys with X-linked congenital adrenal hypoplasia.

Kolesinska Zofia , Rojek Aleksandra , Malecka Elzbieta , Slomko-Jozwiak Malgorzata , Obara-Moszynska Monika , Banaszak-Ziemska Magdalena , Niedziela Marek

Background: X-linked congenital adrenal hypoplasia (adrenal hypoplasia congenita, AHC) is a rare life-threating disorder due to pathogenic variants in the NR0B1 gene. It encodes DAX-1, an orphan nuclear hormone receptor, that acts as a transcription factor and is expressed in the adrenals and hypothalamus-pituitary-gonadal (HPG) axis. Therefore, apart from primary adrenal insufficiency, patients present incomplete or absent puberty and infertility due...