Results 31 to 40 of about 3,538 (167)

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

Abnormal cognitive function in treated congenital hypopituitarism [PDF]

Archives of Disease in Childhood, 2004
To assess cognitive function in school age children with congenital pituitary hormone deficiency (PHD).Ten children with PHD (aged 6.0-15.6 years, mean 11.5 years) and sibling controls (aged 8.7-14.9 years, mean 12.1 years) were assessed using the Wechsler Intelligence Scale for Children (WISC-III UK).The patients' full scale IQ scores were all below ...
Brown K, Rodgers J, Johnstone H, Adams W, Clarke M, Gibson M, Cheetham T   +6 more
openaire   +3 more sources

Hypopituitarism: genetic, developmental, and acquired etiologies with a focus on the emerging concept of autoimmune hypophysitis

Endocrine Journal
Hypopituitarism, characterized by reduced secretion of pituitary hormones, profoundly impacts systemic metabolic homeostasis and quality of life. Its etiology ranges from congenital anomalies in pituitary development to acquired conditions involving ...
Hironori Bando, Shin Urai, Keitaro Kanie, Masaaki Yamamoto   +3 more
doaj   +1 more source

PROP1 gene mutations in a 36-year-old female presenting with psychosis

Endocrinology, Diabetes & Metabolism Case Reports, 2017
Combined pituitary hormonal deficiency (CPHD) is a rare disease that results from mutations in genes coding for transcription factors that regulate the differentiation of pituitary cells.
Durgesh Prasad Chaudhary, Tshristi Rijal, Kunal Kishor Jha, Harpreet Saluja   +3 more
doaj   +1 more source

Septo-optic dysplasia in an infant

Radiology Case Reports, 2022
Septo-optic dysplasia (SOD) is a rare congenital disorder occurring in only 1 in 10,000 live births. Initially it was described in 1941 by Reeves and further discussed by the French-Swiss neurologist de Morsier (1956) as the disease further addressed his
Ermira Aliu, MD, Juna Musa, MD, MSc, Anusha Parisapogu, MBBS, Erisa Kola, MD, Fjolla Hyseni, MD, Ina Kola, MD, Alejandro Obando Blandón, MD, Pooja Roy, MD, Kampa Prathima, MD, Chandalji Naik Banavath, MD, Pooja Kumbha, MD, Shaik Mashood Tappa, MD, Jasmine Saini, MD, Srikrishnan Pichuthirumalai, MD, Ilir Ahmetgjekaj, Assoc. Prof. Dr   +14 more
doaj   +1 more source

Association Between FTO rs1558902 Polymorphism, Age‐Related Hypogonadism, and Central Obesity in Japanese Men

Andrology, EarlyView.
ABSTRACT Background Obesity and low testosterone levels are closely interconnected, with the FTO gene being the most robust genetic determinant of body mass index (BMI). However, whether this primary genetic driver of obesity directly influences the hypothalamic‐pituitary‐testicular (HPT) axis remains unclear.
Takahiro Tsutsumi, Hideyuki Okuma, Fuminori Kazama, Masumi Endo, Yuna Takato, Hitomi Nara, Asako Miyazaki, Nozomi Harai, Kyoichiro Tsuchiya   +8 more
wiley   +1 more source

The Swedish National Pediatric Cataract Register (PECARE): Coexisting systemic disorders 2007–2023

Acta Ophthalmologica, EarlyView.
Abstract Purpose To analyse the frequency and type of coexisting systemic disorders in children operated on for cataract in Sweden. Methods Data were retrieved from the Swedish National Pediatric Cataract Register (PECARE) for children operated between January 1, 2007, and December 31, 2023 (n = 975), including follow‐ups at age 1, 2, 5 and 10 ...
David Wackerberg, Jenny Gyllén, Birgitte Haargaard, Alf Nyström, Arzu Karatepe Hashas, Anna Linnarsson Wiklund, Eric Trocmé, Ulrika Kjellström, Kristina Tornqvist, Gunilla Magnusson   +9 more
wiley   +1 more source

Clinical and genetic features of childhood-onset congenital combined pituitary hormone deficiency: a retrospective, single-center cohort study [PDF]

Annals of Pediatric Endocrinology & Metabolism
Purpose To investigate the clinical characteristics and genetic features of childhood-onset congenital combined pituitary hormone deficiency (cCPHD) in Korean patients.
Yoonha Lee, Young Ah Lee, Jung Min Ko, Choong Ho Shin, Yun Jeong Lee   +4 more
doaj   +1 more source

Xq26.3-q27.1 duplication including SOX3 gene in a Chinese boy with hypopituitarism: case report and two years treatment follow up

BMC Medical Genomics, 2022
Background SOX3 is essential for pituitary development normally at the earliest stages of development. In humans, variants of SOX3 can cause X-linked hypopituitarism with various clinical manifestations, with or without mental retardation.
Caiqi Du, Feiya Wang, Zhuoguang Li, Mini Zhang, Xiao Yu, Yan Liang, Xiaoping Luo   +6 more
doaj   +1 more source

Cryptorchidism is a Useful Clue for Idiopathic Hypogonadotropic Hypogonadism in Pituitary Stalk Thickening

Journal of the ASEAN Federation of Endocrine Societies, 2021
Pituitary stalk lesions can represent a wide range of pathologies. The exact cause is often unknown due to hesitancy to proceed with biopsy.
Shamharini Nagaratnam, Subashini Rajoo, Mohamed Badrulnizam Long Bidin , Norzaini Rose Mohd Zain   +3 more
doaj   +1 more source