Results 41 to 50 of about 572,136 (283)

Iatrogenic chimerism in a patient with Fanconi anemia and delayed puberty

Гинекология, 2020
The article presents a clinical case of delayed puberty in a 13-year-old girl with Fanconi anemia who was sent to the Department of gynecology of children and adolescents for removal of the sexual glands due to the detection of a Y-chromosome in the ...
Zaira Kh. Kumykova, Irina A. Kiseleva, Zalina K. Batyrova, Olga A. Buyanovskaya   +3 more
doaj   +1 more source

Genetic architecture of self-limited delayed puberty and congenital hypogonadotropic hypogonadism

Frontiers in Endocrinology, 2023
Distinguishing between self limited delayed puberty (SLDP) and congenital hypogonadotropic hypogonadism (CHH) may be tricky as they share clinical and biochemical characteristics. and appear to lie within the same clinical spectrum.
Valeria Vezzoli, Faris Hrvat, Giovanni Goggi, Silvia Federici, Biagio Cangiano, Biagio Cangiano, Richard Quinton, Richard Quinton, Luca Persani, Luca Persani, Marco Bonomi, Marco Bonomi   +11 more
doaj   +1 more source

Delayed puberty and response to testosterone in a rat model of colitis

, 2001
Delayed puberty is a frequent complication of inflammatory bowel disease. The precise etiological mechanisms are not known. In this study, we wanted to determine the relative contribution of undernutrition and inflammation to delayed puberty and the ...
Anne B. Ballinger, Martin O. Savage, Michael J. G. Farthing, Omiea G. Azooz   +3 more
core   +1 more source

ADNP‐Related Helsmoortel–Van der Aa Syndrome: A Review of the Literature and Clinical Recommendations for Assessment and Monitoring

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT ADNP‐related Helsmoortel–Van der Aa syndrome (ADNP‐related HVDAS) is a single gene form of autism spectrum disorder (ASD) caused by pathogenic sequence variants in the activity‐dependent neuroprotective protein (ADNP) gene. In addition to ASD, ADNP‐related HVDAS is associated with a wide range of cognitive, behavioral, and physical health ...
Jarrett Fastman, Ana Kolevzon, Paige Siper, Tess Levy, Jeffrey M. Saland, Yitzchak Frank, Robert Rapaport, Kayla Kupietzky, William E. Bennett Jr, Bruce Gelb, Sandra Bedrosian Sermone, Alexander Kolevzon   +11 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

First Report of Uniparental Isodisomy of Chromosome 15 Revealing Angelman Syndrome and Microphthalmia Associated With a Novel Homozygous ALDH1A3 Variant

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Paternal isodisomy of chromosome 15 (iUPD15) is a recognized cause of Angelman syndrome (AS), accounting for approximately 2%–5% of cases. Additionally, another recognized consequence of iUPD is the unmasking of autosomal recessive disorders. However, reports of recessive disorders resulting from iUPD15 remain scarce in the literature.
Gabriela Roldão Correia‐Costa, Joana Rosa Marques Prota, Antonia Paula Marques‐de‐Faria, Carlos Eduardo Steiner, Társis Paiva Vieira   +4 more
wiley   +1 more source

Neurofibromatosis type 1 (NF1) presenting with dichotomous pubertal presentation: a case series

Journal of the Pakistan Medical Association
Neurofibromatosis type 1 (NF1) is an autosomal dominant disorder that is caused by a mutation in the NF1 gene, which is located on chromosome 17q11.2, which encodes for a protein known as “Neurofibromin”, which acts as an inhibitor of oncogene RAS. This
Versha Rani Rai, Heeranand Rathore, Manisha Kumari, Mohsina Noor Ibrahim, Maira Riaz, Roshia Parveen   +5 more
doaj   +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

A Novel Splice Variant in ERGIC1 Causes Arthrogryposis Multiplex Congenita—Characterization Using Urine‐Derived Cells

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis multiplex congenita (AMC) is defined as the presence of joint contractures affecting at least two body regions at birth. Three different ERGIC1 variants have been reported in individuals with AMC. Here, we report on a 16‐year‐old male with a homozygous ERGIC1 c.250+1G>A variant that was classified as a variant of uncertain ...
Lauren Kerr, Paul McKay, Juliana Marulanda, Zenghui Wu, Reggie Hamdy, Sena Tavukcu, Noémi Dahan‐Oliel, Frank Rauch   +7 more
wiley   +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