Results 11 to 20 of about 15,928,102 (138)

HS6ST1 Insufficiency Causes Self-Limited Delayed Puberty in Contrast With Other GnRH Deficiency Genes [PDF]

Journal of Clinical Endocrinology and Metabolism, 2018
Context: Self-limited delayed puberty (DP) segregates in an autosomal-dominant pattern, but the genetic basis is largely unknown. Although DP is sometimes seen in relatives of patients with hypogonadotropic hypogonadism (HH), mutations in genes known to ...
Anna Cariboni, Ariel Poliandri, Michael R. Barnes   +2 more
exaly   +4 more sources

Genetic Evaluation of Patients With Delayed Puberty and Congenital Hypogonadotropic Hypogonadism: Is it Worthy of Consideration?

Frontiers in Endocrinology, 2020
Delayed puberty is a common reason of pediatric endocrinological consultation. It is often a self-limited (or constitutional) condition with a strong familial basis. The type of inheritance is variable but most commonly autosomal dominant.
Adalgisa Festa, Giuseppina Rosaria Umano, Emanuele Miraglia del Giudice, Anna Grandone   +3 more
doaj   +2 more sources

Contributions of Function-Altering Variants in Genes Implicated in Pubertal Timing and Body Mass for Self-Limited Delayed Puberty [PDF]

Journal of Clinical Endocrinology and Metabolism, 2018
Context: Self-limited delayed puberty (DP) is often associated with a delay in physical maturation, but although highly heritable the causal genetic factors remain elusive.
Alessia David, Giles Yeo, Ariel Poliandri   +2 more
exaly   +4 more sources

A Shared Genetic Basis for Self-Limited Delayed Puberty and Idiopathic Hypogonadotropic Hypogonadism [PDF]

, 2016
Background: Delayed puberty is a common condition and, in the absence of an underlying condition, is self-limited in most cases. Though delayed puberty appears to be heritable, no specific genetic cause has yet been reported.
Zhu, Jia
core   +6 more sources

A Shared Genetic Basis for Self-Limited Delayed Puberty and Idiopathic Hypogonadotropic Hypogonadism

Journal of Clinical Endocrinology and Metabolism, 2015
Stephanie B Seminara, Michael H Guo, Joel Hirschhorn   +2 more
exaly   +2 more sources

Functional hypogonadism in adolescence: an overlooked cause of secondary hypogonadism

Endocrine Connections, 2023
Hypogonadism is a clinical syndrome resulting from failure to produce physiological concentrations of sex steroid hormones with accompanying symptoms, such as slowed growth and delayed pubertal maturation.
Rebeca Esquivel-Zuniga, Alan D Rogol
doaj   +1 more source

Phenotypic spectrum of patients with mutations in CHD7: clinical implications of endocrinological findings

Endocrine Connections, 2022
Objective: Heterozygous CHD7 mutations cause a broad spectrum of clinical phenotypes ranging from typical CHARGE syndrome to self-limited delayed puberty.
Ja Hye Kim, Yunha Choi, Soojin Hwang, Gu-Hwan Kim, Han-Wook Yoo, Jin-Ho Choi   +5 more
doaj   +1 more source

Role of IGSF10 mutations in self-limited delayed puberty [PDF]

, 2016
Background Abnormal timing of puberty affects over 4% of adolescents and is associated with adverse health and psychosocial outcomes. Previous studies estimate that 60–80% of variation in the timing of pubertal onset is genetically determined.
Sternberg, M, Warren, H, Gerard Ruiz-Babot, Valentina Andre, Barnes, M, Michael Sternberg, Wehkalampi, K, Andre, V, Sasha Howard, Helen Storr, Michael Barnes, Leo Dunkel, Leo Guasti, David, A, Cabrera, C, Mancini, A, Louise Metherell, Alessandra Mancini, Helen Warren, Karoliina Wehkalampi, Alessia David, Guasti, L, Anna Cariboni, Gothilf, Y, Ruiz-Babot, G, Yoav Gothilf, Metherell, L, Claudia Cabrera, Howard, S, Cariboni, A, Storr, H, Dunkel, L   +31 more
core   +1 more source

‘I don't know what is autism, what is normal teenage behaviour, and what is naughtiness’: Conceptualising child and adolescent to parent violence in the context of neurodevelopmental difference

Children &Society, EarlyView., 2023
Abstract This article presents findings from a UK‐based qualitative study that explored parents/carers experiences of child to parent violence (CPV) from their child who has a neurodevelopmental difference. The study used semi‐structured interviews with 15 mothers who were experiencing physical and psychological violence from their child, often on a ...
Amanda Holt
wiley   +1 more source

Pubertal development in HIV-infected African children on first-line antiretroviral therapy. [PDF]

, 2015
To estimate age at attaining Tanner stages in Ugandan/Zimbabwean HIV-infected children initiating antiretroviral therapy (ART) in older childhood and investigate predictors of delayed puberty, particularly age at ART ...
Prendergast, AJ, Musiime, V, Bwakura-Dangarembizi, M, ARROW Trial Team,, Szubert, AJ, Nathoo, K, Gibb, DM, Nahirya-Ntege, P, Kekitiinwa, A, Walker, AS   +9 more
core   +1 more source