Delayed puberty—phenotypic diversity, molecular genetic mechanisms, and recent discoveries

SR Howard, L Dunkel - Endocrine reviews, 2019 - academic.oup.com
This review presents a comprehensive discussion of the clinical condition of delayed
puberty, a common presentation to the pediatric endocrinologist, which may present both …

Clinical management and therapy of precocious puberty in the Sapienza University Pediatrics Hospital of Rome, Italy

G Micangeli, R Paparella, F Tarani, M Menghi… - Children, 2023 - mdpi.com
Puberty identifies the transition from childhood to adulthood. Precocious puberty is the onset
of signs of pubertal development before age eight in girls and before age nine in boys, it has …

High frequency of MKRN3 mutations in male central precocious puberty previously classified as idiopathic

DS Bessa, DB Macedo, VN Brito, MM França… - …, 2017 - karger.com
Background/Aims: Recently, loss-of-function mutations in the MKRN3 gene have been
implicated in the etiology of familial central precocious puberty (CPP) in both sexes. We …

Methylome profiling of healthy and central precocious puberty girls

DS Bessa, M Maschietto, CF Aylwin, APM Canton… - Clinical …, 2018 - Springer
Background Recent studies demonstrated that changes in DNA methylation (DNAm) and
inactivation of two imprinted genes (MKRN3 and DLK1) alter the onset of female puberty …

Difficulties in the diagnosis and treatment of rare diseases according to the perceptions of patients, relatives and health care professionals

MT Lopes, VH Koch, V Sarrubbi-Junior, PR Gallo… - Clinics, 2018 - SciELO Brasil
OBJECTIVES: The aim of this study is to present a survey of vulnerabilities and to suggest
approaches for the treatment of rare diseases according to the perceptions of a group of …

Assessment of stress levels in girls with central precocious puberty before and during long-acting gonadotropin-releasing hormone agonist treatment: a pilot study

TAS Menk, M Inácio, DB Macedo, DS Bessa… - Journal of Pediatric …, 2017 - degruyter.com
Background: The objective of the study was to determine the stress levels of girls with central
precocious puberty (CPP) before and during treatment with a long-acting gonadotropin …

Time course of central precocious puberty development caused by an MKRN3 gene mutation: a prismatic case

MF Stecchini, DB Macedo, ACS Reis… - Hormone research in …, 2016 - karger.com
Background: Loss-of-function mutations in the imprinted gene MKRN3 represent the most
common known genetic defects associated with central precocious puberty (CPP). Methods …

[HTML][HTML] Applicability of a novel mathematical model for the prediction of adult height and age at menarche in girls with idiopathic central precocious puberty

MC Lopes, CO Ramos, AC Latronico, BB Mendonça… - Clinics, 2018 - SciELO Brasil
OBJECTIVES: Unfavorable predicted adult height and psychosocial inadequacy represent
parameters used to guide therapeutic intervention in girls with central precocious puberty …

Puberty: When is it normal?

VN Brito, AC Latronico - Archives of Endocrinology and Metabolism, 2015 - SciELO Brasil
Classically, the normal chronological age for pubertal onset is between 8 and 13 years in
girls and 9 and 14 years in boys based on data from epidemiological studies from the 60's …

[HTML][HTML] Evaluation of central precocious puberty treatment with GnRH analogue at the Triangulo Mineiro Federal University (UFTM)

MF Borges, PM Franciscon, TC Cambraia… - … of Endocrinology and …, 2015 - SciELO Brasil
Objective To report our experience of treating central precocious puberty (CPP) with a GnRH
analogue with respect to the final heights (FH) attained in patients who completed treatment …