Results 161 to 170 of about 5,557 (240)

Endocrine and pubertal disturbances in optic nerve hypoplasia, from infancy to adolescence [PDF]

, 2015

core   +1 more source

A Case of Congenital Hypopituitarism: Difficulty in the Diagnosis of ACTH Deficiency Due to High Serum Cortisol Levels from a Hypothyroid State.

, 1999
Kenji Nanao, Junko Miyamoto, Makoto Anzo, Toshinori Tsukuda, Yukihiro Hasegawa   +4 more
openalex   +2 more sources

Endocrine morbidity in midline brain defects: Differences between septo-optic dysplasia and related disorders

EClinicalMedicine, 2020
Background: Septo-optic dysplasia (SOD) is a heterogeneous congenital condition. The aim of this study was to investigate the clinical phenotypes of a large cohort of children with SOD, Multiple Pituitary Hormone Deficiency (MPHD) and Optic Nerve ...
M. Cerbone, M. Güemes, A. Wade, N. Improda, M. Dattani   +4 more
doaj  

Neonatal Identification of Congenital Hypopituitarism with an Invisible Pituitary Stalk and Pituitary Aplasia: Usefulness of Early Growth Hormone Replacement

, 2005
Keisuke Nagasaki, Tsukasa Ohashi, Makoto Hiura, Toru Kikuchi, Masashi Suda, Makoto Uchiyama   +5 more
openalex   +2 more sources

Nonsyndromic bilateral and unilateral optic nerve aplasia: first familial occurrence and potential implication of CYP26A1 and CYP26C1 genes [PDF]

, 2011
Purpose: Optic nerve aplasia (ONA, OMIM 165550) is a very rare unilateral or bilateral condition that leads to blindness in the affected eye, and is usually associated with other ocular abnormalities.
Brachet, Cecile, Christophe, Catherine, De Baere, Elfride, Delpierre, Isabelle, Depasse, Fanny, Meire, Françoise, Menten, Björn, Roulez, Françoise, Van Nechel, Chrisitan   +8 more
core   +1 more source

Disruption of RNA Splicing Is an Important Contributor to Congenital Hypopituitarism and Other Human Genetic Diseases.

Endocrinology, 2023
Camper SA, Smith C, Kitzman JO.
europepmc   +1 more source

Malignant disease in childhood : the price of cure : late physical and socioeconomic effects of treatment [PDF]

, 1997
The aim of cancer therapy in childhood is to achieve a lasting cure without physical and psychosocial harm and, preferably, at a low financial cost. Although cure is possible in many types of childhood cancer, this is often accompanied by complications ...
Attard Montalto, Simon, Calvagna, Victor, Torpiano, John G., Vella, Patricia   +3 more
core  

Phenotypic spectrum of patients with congenital disorders of the hypothalamo-pituitary axis. [PDF]

, 2007
Mutations within the cascade of pituitary transcription factors that play a crucial role in its development and differentiation have improved our understanding of variable hypopituitarism in children. The diagnosis of hypopituitarism is problematic as it
Mehta, A.
core  

Neuro-Ophthalmological Manifestations Of Septo-Optic Dysplasia: Current Perspectives

Eye and Brain, 2019
Mario Ganau,1 Sibel Huet,1 Nikolaos Syrmos,2 Marco Meloni,3 Jayaratnam Jayamohan1 1Department of Neurosurgery, Oxford University Hospitals NHS Foundation Trust, Oxford, UK; 2Department of Neurosurgery, School of Medicine, Aristotle University of ...
Ganau M, Huet S, Syrmos N, Meloni M, Jayamohan J   +4 more
doaj  

Relationship between the Morphological Evaluation of the Pituitary and the Growth Hormone (GH) Response to GH-Releasing Hormone Plus Arginine in Children and Adults with Congenital Hypopituitarism¹ [PDF]

, 2001
Mohamad Maghnie, Barbara Salati, Silvia Bianchi, M Rallo, Carmine Tinelli, Michele Autelli, Gianluca Aimaretti, Ezio Ghigo   +7 more
openalex   +1 more source