Results 91 to 100 of about 3,689 (193)

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

Response to “Gonadotropin Treatment of Cryptorchidism in Congenital Hypogonadotropic Hypogonadism—Age Is No Limit?”

Clinical Endocrinology, Volume 102, Issue 6, Page 706-707, June 2025.
Yoon Hi Cho, Aniruddh Deshpande, Catherine Langusch, Geoffrey Ambler   +3 more
wiley   +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

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

Cholestasis and hypoglycemia: manifestations of congenital anterior hypopituitarism. [PDF]

, 1996
Lee R. Choo‐Kang, Chen Sun, Debra Counts   +2 more
openalex   +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

The role of the sonic hedgehog signalling pathway in patients with midline defects and congenital hypopituitarism [PDF]

, 2014
Louise Gregory, Carles Gaston‐Massuet, Cynthia L. Andoniadou, Gabriela Carreno, Emma Webb, Daniel Kelberman, Mark J. McCabe, L Panagiotakopoulos, José W. Saldanha, Helen Spoudeas, John Torpiano, Michela Rossi, J. E. Raine, Natalie Canham, Juan Pedro Martı́nez-Barberá, Mehul Dattani   +15 more
openalex   +1 more source

A Patient With Congenital Hypopituitarism And The Dynamics Of Clinical Manifestations Case From Practice

, 2020
Urmanova Yulduz Maxkamovna, Alieva Dinara Abralovna, Karimova Nazira Alimovna, Dalimova Guzal Abdurashitovna, Mavlonov Utkir Khamidovich, Safarova Shokhsanam Masharipovna   +5 more
openalex   +2 more sources

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