Results 41 to 50 of about 31,437 (284)

Delayed puberty in thalassemia major patients

, 2016
Background Delayed puberty is the most common endocrine com-plication in thalassemia major. The main cause of delayed pu-berty in thalassemia major is the failure of the hypothalamic-pitu-itary axis due to iron accumulation in the pituitary.Objectives ...
Jose RL Batubara, Arwin Akib, Diah Pramita   +2 more
core   +1 more source

Long‐Term Follow Up of Two Patients With Variants in the Cluster 1031‐1159 of TRRAP Gene: Expanding the Phenotype of Developmental Delay With or Without Dysmorphic Facies and Autism

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The transformation/transcription domain‐associated protein (TRRAP) gene encodes a large multidomain protein, a member of the phosphatidylinositol 3‐kinase‐related kinase (PIKK) family. TRRAP is a component of the histone acetyltransferase (HAT) complex, and it plays an important role in gene transcription, DNA repair, and cell‐cycle regulation.
Roseli Maria Zechi‐Ceide, Vinicius Contrucci Dantas Segarra, Siulan Vendramini‐Pittoli, Henrique Regonaschi Serigatto, Luiza Virmond, Heloisa Marcelina da Cunha Palhares, Fernanda Jehee, Ana Cristina Victorino Krepischi, Carla Rosenberg, Carlos Henrique Paiva Grangeiro, Nancy Mizue Kokitsu‐Nakata   +10 more
wiley   +1 more source

Investigation of montelukast effect on rosuvastatin induced late puberty in rats

Journal of Human Reproductive Sciences, 2022
Background: Puberty is a critical process for the development of sexual organs and reproductive ability. It is triggered and regulated by the hormones.
Tamadir Hamid Wadi Aledani, Manal Nasser Al-Hayder, Suha Haitham Mohammed, Rawaa Salim Al-Mayyahi   +3 more
doaj   +1 more source

Growth and Pubertal Development Among HIV Infected Children Aged 8-18 years in Dar es Salaam [PDF]

, 2012
Advances in management of HIV-infected infants and children have been remarkable, majority of infected children are now surviving into adolescence. Several studies have shown that growth and pubertal development is often impaired among children with HIV ...
Mbwile, Gloria Reginald, Mbwile, G.R
core  

Treatment of delayed puberty and hypogonadism in girls [PDF]

, 1991
The therapeutic management of female delayed puberty depends more on the objectives than on the underlying cause. We will have to consider the development of sex characteristics, the occurrence of menarche and the promotion of growth.
Heinrichs, Claudine, Bourguignon, Jean-Pierre   +1 more
core   +1 more source

The Homozygous p.(Arg215Ter) Variant in XRCC2 Is Associated With Atypical Fanconi Anemia Without Major Hematological Abnormalities in Childhood

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Fanconi Anemia (FA) is the most frequent inherited bone marrow failure syndrome. A role for the XRCC2 gene in FA was suspected in 2012 and confirmed in 2016, but only two affected individuals have been described thus far, and no long‐term follow‐up is available.
Sabina Cenciarelli, Giulia Bruna Marchetti, Maria Iascone, Maria Grazia Patricelli, Sara Giangiobbe, Gabriella Cinzia Pozzobon, Miriam Nella Savini, Fabio Giglio, Alessandro Aiuti, Paola Carrera, Francesca Ferrua, Angela Peron   +11 more
wiley   +1 more source

Streamlining Diagnosis of Bardet–Biedl Syndrome: New Diagnostic Algorithm With Updated Criteria

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Considerable advances have been made in our understanding of Bardet–Biedl syndrome (BBS), particularly in its core clinical features and molecular genetics, warranting an update to the existing diagnostic criteria framework. Using a rigorous, evidence‐based, and consensus‐driven process, a multidisciplinary group of international experts and ...
Jeremy J. Pomeroy, Jesse Richards, Brooke R. Sweeney, Seema Kumar, Katie E. Queen, Joshua Zaritsky, Carl H. Cramer, Elias I. Traboulsi, Brittni A. Scruggs, Erica E. Davis, Ekaterina Keifer, Emma McGibbon, Timothy Ogden, Bendert De Graaf, Tonia Hymers, Elizabeth Forsythe, Philip Beales   +16 more
wiley   +1 more source

A Novel Homozygous Mutation of the Acid-Labile Subunit (IGFALS) Gene in a Male Adolescent

JCRPE, 2019
Acid-labile subunit (ALS) forms ternary complexes with insulin like growth factor-1 (IGF-1) and IGF-binding protein-3 (IGFBP-3) and is essential for normal circulating IGF-1 levels.
Şükran Poyrazoğlu, Vivian Hwa, Firdevs Baş, Andrew Dauber, Ron Rosenfeld, Feyza Darendeliler   +5 more
doaj   +1 more source

The onset of puberty in adolescents with type 1 diabetes mellitus in comparison to a group of non-diabetic teenagers in Erbil City: A cross-sectional comparative study

Zanco Journal of Medical Sciences
Background and objective: Puberty and type 1 diabetes (T1DM) have a complex relationship. This study aims to determine the prevalence of delayed puberty among a sample of type 1 diabetes adolescents and compare it to a non-diabetic group.
Ali Shakir Dauod, Aziz Muzafar Jafaar, Nawa Mohammed Abdullah   +2 more
doaj   +1 more source

Delayed and Precocious Puberty: Genetic Underpinnings and Treatments

, 2020
Delayed puberty may signify a common variation of normal development, or indicate the presence of a pathologic process. Constitutional delay of growth and puberty is a strongly familial type of developmental pattern and accounts for the vast majority of ...
Eugster, Erica A., Gohil, Anisha
core   +1 more source