Results 51 to 60 of about 3,689 (193)

Micropenis: an important early sign of congenital hypopituitarism. [PDF]

BMJ, 1984
Micropenis is an important sign in neonates, since it may be the only clue to the diagnosis of panhypopituitarism, a potentially lethal but eminently treatable condition.
Salisbury, DM, Leonard, JV, Dezateux, CA, Savage, MO   +3 more
openaire   +3 more sources

Less known aspects of central hypothyroidism: Part 2 – Congenital etiologies

Journal of Clinical & Translational Endocrinology, 2018
Central hypothyroidism (CH) occurs approximately in 1:50,000, and therefore is expected to be one thousand times rarer compared with primary hypothyroidism.
Salvatore Benvenga, Marianne Klose, Roberto Vita, Ulla Feldt-Rasmussen   +3 more
doaj   +1 more source

Presentation and diagnosis of childhood-onset combined pituitary hormone deficiency: A single center experience from over 30 years

EClinicalMedicine, 2022
Summary: Background: Childhood-onset combined pituitary hormone deficiency (CPHD) has a wide spectrum of etiologies and genetic causes for congenital disease. We aimed to describe the clinical spectrum and genetic etiologies of CPHD in a single tertiary
Johanna Hietamäki, Juho Kärkinen, Anna-Pauliina Iivonen, Kirsi Vaaralahti, Annika Tarkkanen, Henrikki Almusa, Hanna Huopio, Matti Hero, Päivi J. Miettinen, Taneli Raivio   +9 more
doaj   +1 more source

Heterozygous defects in PAX6 gene and congenital hypopituitarism [PDF]

European Journal of Endocrinology, 2015
BackgroundThe prevalence of congenital hypopituitarism (CH) attributable to known transcription factor mutations appears to be rare and other causative genes for CH remain to be identified. Due to the sporadic occurrence of CH,de novochromosomal rearrangements could be one of the molecular mechanisms participating in its etiology, especially in ...
Masaki, Takagi, Keisuke, Nagasaki, Ikuma, Fujiwara, Tomohiro, Ishii, Naoko, Amano, Yumi, Asakura, Koji, Muroya, Yukihiro, Hasegawa, Masanori, Adachi, Tomonobu, Hasegawa   +9 more
openaire   +2 more sources

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

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

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

Regulation of PHOX2B gene expression by the long non‐coding natural antisense RNA PHOX2B‐AS1

The FEBS Journal, EarlyView.
PHOX2B is a transcription factor essential for autonomic nervous system development. We identify and characterize PHOX2B‐AS1, a human long non‐coding antisense transcript at the PHOX2B locus, along with its murine counterpart. Our findings reveal bidirectional transcription and reciprocal regulation: PHOX2B activates PHOX2B‐AS1, whereas PHOX2B‐AS1 ...
Simona Di Lascio, Ana Lucia Cuadros Gamboa, Martina Bertocchi, Filippo Chiesa, Francesca Cargnin, Ettore Mosca, Paride Pelucchi, Viviana Tritto, Stefania Corti, Isabella Ceccherini, Paola Riva, Roberta Benfante, Diego Fornasari   +12 more
wiley   +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

Post‑Marketing Surveillance of the Safety and Effectiveness of Emicizumab in Japanese Patients With Congenital Haemophilia A With Inhibitors

Haemophilia, EarlyView.
ABSTRACT Introduction The bispecific monoclonal antibody emicizumab was approved for prophylactic treatment of congenital haemophilia A (HA) in Japan in 2018. Aim To monitor long‐term safety and effectiveness of emicizumab, including appropriate concomitant use of bypassing agents (BPAs), in Japanese patients with congenital HA with inhibitors who ...
Midori Shima, Katsuyuki Fukutake, Masanori Matsumoto, Yoshihiko Sugimura, Chiaki Sugita, Lyu Ji, Mika Kawano, Tadashi Matsushita   +7 more
wiley   +1 more source