Results 71 to 80 of about 3,538 (167)

Solitary median maxillary central incisor (SMMCI) syndrome

Orphanet Journal of Rare Diseases, 2006
Solitary median maxillary central incisor syndrome (SMMCI) is a complex disorder consisting of multiple, mainly midline defects of development resulting from unknown factor(s) operating in utero about the 35th–38th day(s) from conception. It is estimated
Hall Roger K
doaj   +1 more source

[Congenital hypopituitarism: report of 23 cases].

Revista medica de Chile, 2009
Congenital hypopituitarism is an uncommon cause of hypophyseal insufficiency It is less common than growth hormone deficiency which has an incidence of 1:4.000 to 1:8.000 live newborns. Early diagnosis of this condition is important to prevent impairment of cognitive function, poor growth and alterations in metabolic profile in these patients.To report
Juan Javier, Lammoglia, Francisca, Eyzaguirre, Nancy, Unanue, Rossana, Román, Ethel, Codner, Fernando, Cassorla, Verónica, Mericq   +6 more
openaire   +2 more sources

Knockout mice with pituitary malformations help identify human cases of hypopituitarism

Genome Medicine
Background Congenital hypopituitarism (CH) and its associated syndromes, septo-optic dysplasia (SOD) and holoprosencephaly (HPE), are midline defects that cause significant morbidity for affected people. Variants in 67 genes are associated with CH, but a
Julian Martinez-Mayer, Michelle L. Brinkmeier, Sean P. O’Connell, Arnold Ukagwu, Marcelo A. Marti, Mirta Miras, Maria V. Forclaz, Maria G. Benzrihen, Leonard Y. M. Cheung, Sally A. Camper, Buffy S. Ellsworth, Lori T. Raetzman, Maria I. Pérez-Millán, Shannon W. Davis   +13 more
doaj   +1 more source

A Novel Missense Variant in LHX4 in Three Children with Multiple Pituitary Hormone Deficiency Belonging to Two Unrelated Families and Contribution of Additional GLI2 and IGFR1 Variant

Children
Background: Multiple genes can disrupt hypothalamic–pituitary axis development, causing multiple pituitary hormone deficiencies (MPHD). Despite advances in next-generation sequencing (NGS) identifying over 30 key genes, 85% of cases remain unsolved ...
Claudia Santoro, Francesca Aiello, Antonella Farina, Emanuele Miraglia del Giudice, Filomena Pascarella, Maria Rosaria Licenziati, Nicola Improda, Giulio Piluso, Annalaura Torella, Francesca Del Vecchio Blanco, Mario Cirillo, Vincenzo Nigro, Anna Grandone   +12 more
doaj   +1 more source

Generation of an iPSC line from congenital hypopituitarism patient with a nonsense heterozygous variant in FOXA2

Stem Cell Research
Forkhead box A2 (FOXA2) is a pioneer transcription factor, necessary for human development. Mutations in FOXA2 were recently associated with congenital hypopituitarism (CH); however, the pathogenic mechanism remains unknown.
Camilletti Maria Andrea, Chirino Felker Gonzalo Tomás, Castañeda Sheila, Zabalegui Federico, Amin Guadalupe, Belgorosky Alicia, Ciaccio Marta, Di Palma Maria Isabel, Vaiani Elisa, Waisman Ariel, Miriuka Santiago, Pérez Millán María Inés, Moro Lucia Natalia   +12 more
doaj   +1 more source

Pituitary stalk interruption syndrome (PSIS): a rare cause of congenital hypopituitarism

The Egyptian Journal of Radiology and Nuclear Medicine
Background Pituitary stalk interruption syndrome (PSIS) is a rare congenital malformation of the pituitary stalk that leads to hypopituitarism, presenting with a variety of endocrine dysfunctions, including delayed puberty, short stature, and ...
Bayar Ahmed Qasim, Abdlaziz Brifkani, Ali H. Ali, Maryam M. Alias, Nada O. Dawod, Abdulkareem M. Jomaa, Halder J. Abozait   +6 more
doaj   +1 more source

Genetic diagnosis of congenital hypopituitarism in Turkish patients by a target gene panel: novel pathogenic variants in GHRHR, GLI2, LHX4 and POU1F1 genes. [PDF]

Arch Endocrinol Metab, 2023
Kırkgöz T, Gürsoy S, Acar S, Nalbantoğlu Ö, Özkaya B, Anıl Korkmaz H, Hazan F, Özkan B.   +7 more
europepmc   +1 more source

Patent ductus arteriosus in a late preterm neonate: think congenital hypopituitarism. [PDF]

BMJ Case Rep, 2022
Kwan R, Vasanwala RF, Baral VR.
europepmc   +1 more source

Central hyperthermia control after propranolol therapy in an infant with septo-optic dysplasia

Portuguese Journal of Pediatrics
Introduction: Septo-optic dysplasia (SOD) is a congenital midline brain malformation syndrome involving the hypothalamus-pituitary axis with hypopituitarism and thermal instability.
Afonso Sousa, Maria João Lage, Lurdes Lopes   +2 more
doaj   +1 more source

Newborn screening for central congenital hypothyroidism: past, present and future

European Thyroid Journal
Congenital hypothyroidism (CH) is defined as thyroid hormone deficiency at birth and constitutes one of the most common causes of preventable intellectual disability worldwide.
Mark R Garrelfs, Christiaan F Mooij, Anita Boelen, A S Paul van Trotsenburg, Nitash Zwaveling-Soonawala   +4 more
doaj   +1 more source