Results 41 to 50 of about 540,529 (281)

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

Assessment of Growth in Cardio‐Facio‐Cutaneous Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cardio‐facio‐cutaneous (CFC) syndrome is a rare, multiple congenital anomaly disorder in which individuals commonly experience faltering growth; however, systematic analysis of growth parameters in this disorder has not been performed. We recruited 69 participants with CFC through CFC International and collected data on assessing height ...
Kari Johnston, Sandesh C. S. Nagamani, Bradley S. Miller, Katherine A. Rauen, Richard D. Boyce, Salma Musaad, Pilar L. Magoulas   +6 more
wiley   +1 more source

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

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  

Spinal Involvement in Charge Syndrome: Implications for Management

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT CHARGE syndrome (OMIM #214800) is an autosomal dominant disorder caused by mutations in the CHD7 gene in most cases. Although originally defined by the CHARGE acronym (coloboma, heart defects, choanal atresia, growth restriction, genital hypoplasia, and ear anomalies), the recognized phenotype has expanded considerably to include highly ...
Adriana Gomes, Álvaro Martín‐Rodríguez, Miguel del Campo Casanelles, Marilyn C. Jones, Daniela Carvalho, Lynne M. Bird   +5 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

Perbandingan Protein Serum Sapi Potong Fertile dan Delayed Puberty [PDF]

Gangguan reproduksi delayed puberty sering ditemukan pada sapi potong, yang kemungkinan berkaitan dengan protein di dalam darah. Penelitian ini bertujuan membandingkan protein serum  pada sapi fertile dan delayed puberty.
Priyo, Topas Wicaksono, Indarjulianto, Soedarmanto, Setyawan, Erif Maha Nugraha, Nururrozi, Alfarisa   +3 more
core   +1 more source

A Rare Form of Microcephalic Primordial Dwarfism due to NSMCE2 Deficiency (Seckel Syndrome Type 10): A Report of Macular Involvement

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Biallelic variants in NSMCE2 (MMS21), which encodes the SUMO E3 ligase subunit of the SMC5/6 chromatin‐maintenance complex, have recently been implicated in microcephalic primordial dwarfism (MPD), corresponding to Seckel syndrome type 10 (OMIM #617246).
Cristina Peduto, Céline Huber, Clément Paya, Isabelle Audo, Nathalie Boddaert, Valérie Cormier‐Daire   +5 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