Results 1 to 10 of about 5,102 (142)

[Congenital hypopituitarism with monosomy of chromosome 18]. [PDF]

Probl Endokrinol (Mosk), 2021
Congenital hypopituitarism is a rare disease. It can be caused by isolated inborn defects of the pituitary, gene mutations (PROP1, PIT1), and chromosomal abnormalities.Deletions of chromosome 18 (De Grouchy syndrome types 1 and 2) are a group of rare genetic diseases with a frequency of 1:50,000.
Bolmasova AV, Melikyan MA, Gadzhieva ZS, Puchkova AA, Degtyareva AV, Peterkova VA.   +5 more
europepmc   +5 more sources

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 ...
Dezateux, CA, Leonard, JV, Salisbury, DM, Savage, MO   +3 more
core   +7 more sources

Diagnostic pitfalls in the assessment of congenital hypopituitarism. [PDF]

Journal of Endocrinological Investigation, 2014
BACKGROUND: The diagnosis of congenital hypopituitarism is difficult and oftendelayed because its symptoms are nonspecific.AIM: To describe the different clinical presentations of children with congenitalhypopituitarism to reduce the time for diagnosis ...
Antoniazzi, Franco, Biban, P, Cavarzere, P, Chini, L, Gaudino, Rossella, Perlini, S, Sartore, L, Silvagni, D   +7 more
core   +4 more sources

The Molecular Basis of Congenital Hypopituitarism and Related Disorders [PDF]

The Journal of Clinical Endocrinology & Metabolism, 2020
CONTEXT: Congenital hypopituitarism (CH) is characterized by the presence of deficiencies in one or more of the six anterior pituitary (AP) hormones secreted from the five different specialized cell types of the AP.
Dattani, MT, Gregory, LC
core   +5 more sources

Prolonged neonatal hyperbilirubinaemia in a case of congenital hypopituitarism. [PDF]

BMJ Case Rep, 2019
A 2-month-old girl presented with prolonged neonatal jaundice along with progressive abdominal distension and intermittent passage of hard stools. There was no history of high coloured urine, clay coloured stool, poor feeding, lethargy or high-pitched cry.
Bhattacharya D, Kumar R, Dayal D.
europepmc   +4 more sources

Mutations in MAGEL2 and L1CAM Are Associated With Congenital Hypopituitarism and Arthrogryposis. [PDF]

J Clin Endocrinol Metab, 2019
AbstractContextCongenital hypopituitarism (CH) is rarely observed in combination with severe joint contractures (arthrogryposis). Schaaf-Yang syndrome (SHFYNG) phenotypically overlaps with Prader-Willi syndrome, with patients also manifesting arthrogryposis. L1 syndrome, a group of X-linked disorders that include hydrocephalus and lower limb spasticity,
Gregory LC, Shah P, Sanner JRF, Arancibia M, Hurst J, Jones WD, Spoudeas H, Le Quesne Stabej P, Williams HJ, Ocaka LA, Loureiro C, Martinez-Aguayo A, Dattani MT.   +12 more
europepmc   +8 more sources

Congenital hypopituitarism: how to select the patients for genetic analyses. [PDF]

Ital J Pediatr, 2018
Aim of this commentary is to analyze the relationships between genotypic bases and phenotypic expression of congenital “multiple pituitary hormone deficiency” (MPHD) syndrome and to indicate some reliable criteria for selecting the patients who should undergo genetic analyses in order to clarify the etiology of their disorder.
Crisafulli G, Aversa T, Zirilli G, De Luca F, Gallizzi R, Wasniewska M.   +5 more
europepmc   +7 more sources

Genetic diagnosis of congenital hypopituitarism by a target gene panel: novel pathogenic variants in GLI2, OTX2 and GHRHR. [PDF]

Endocr Connect, 2019
Aim: Congenital hypopituitarism has an incidence of 1:3500–10,000 births and is defined by the impaired production of pituitary hormones. Early diagnosis has an impact on management and genetic counselling.
Nakaguma M, Correa FA, Santana LS, Benedetti AFF, Perez RV, Huayllas MKP, Miras MB, Funari MFA, Lerario AM, Mendonca BB, Carvalho LRS, Jorge AAL, Arnhold IJP.   +12 more
europepmc   +3 more sources

Genetic regulation of pituitary gland development in human and mouse [PDF]

, 2009
Normal hypothalamopituitary development is closely related to that of the forebrain and is dependent upon a complex genetic cascade of transcription factors and signaling molecules that may be either intrinsic or extrinsic to the developing Rathke’s ...
Aarskog, Acampora, Agarwal, Aijaz, Alba, Ambrosetti, Ambrosetti, Andersen, Andersen, Andersen, Andoniadou, Arroyo, Asteria, Avilion, Bach, Bakrania, Bao, Barnhart, Bartke, Bartke, Bhangoo, Bhati, Bilodeau, Blankenstein, Bodner, Boncinelli, Bonnefont, Böttner, Briata, Brickman, Brinkmeier, Brinkmeier, Brown, Brown, Cai, Carvalho, Castinetti, Cattanach, Cha, Charles, Charles, Chassaing, Chatelain, Chen, Chou, Christian, Cogan, Cohen, Cohen, Cohen, Cohen, Corneli, Couly, Couly, Coya, Cushman, Cushman, Daikoku, Daniel Kelberman, Dasen, Dasen, Dateki, Dattani, Davis, De Moerlooze, de Zegher, Deladoëy, Diaczok, Dodé, Douglas, Driever, Drouin, Duquesnoy, Dutta, Ellsworth, Ericson, Ezzat, Faivre, Falardeau, Fantes, Fauquier, Ferrand, Ferri, Flück, Fofanova, Fofanova, Fofanova, Gage, Gage, Gage, Gage, Gaston-Massuet, Gat-Yablonski, Gat-Yablonski, Gleiberman, Gleiberman, Gordon, Granger, Guichet, Hagstrom, Hamel, Hashimoto, Hayward, Hendriks-Stegeman, Hermesz, Hertzano, Himes, Hol, Holl, Hökfelt, Huang, Hui, Hume, Iain C. A. F. Robinson, Idrees, Ikeda, Ingraham, Irie, Japón, Jean, Kan, Karine Rizzoti, Kawamura, Kawamura, Kelberman, Kelberman, Kelberman, Kimura, Kioussi, Kishimoto, Kita, Kitamura, Kouki, Kriström, Kurokawa, Kurokawa, Lagerström-Fermér, Lamolet, Lamonerie, Lanctôt, Lanctôt, Laumonnier, Le Tissier, Lebl, Lemos, Li, Li, Li, Li, Lim, Lin, Lin, Lindsay, Liu, Lourenço, López-Ríos, Lu, Luo, Machinis, Machinis, Malvagia, Mansukhani, Martinez-Barbera, McGillivray, McLennan, McNay, Mehul T. Dattani, Mendonca, Metherell, Miyata, Morceau, Murray, Naiche, Nasonkin, Netchine, Ngan, Nolen, Norlin, Nose, Nudi, Ohta, Ohuchi, Okamoto, Olson, Olson, Osorio, Osumi-Yamashita, Pabst, Paracchini, Parkin, Parks, Patel, Pellegrini-Bouiller, Pernasetti, Pernasetti, Pfaeffle, Pfaeffle, Pfaffle, Pfäffle, Phillips 3rd, Pitteloud, Pogoda, Potok, Poulin, Pulichino, Pulichino, Qi, Quentien, Radovick, Raetzman, Raetzman, Raetzman, Ragge, Ragge, Rainbow, Rajab, Raverot, Rayapureddi, Reynaud, Reynaud, Rhinn, Rhodes, Rhodes, Riepe, Rizzoti, Rizzoti, Rizzoti, Robin Lovell-Badge, Rodrigues Martineli, Roessler, Roessler, Rubenstein, Sadovsky, Sajedi, Sajedi, Salemi, Salisbury, Sato, Savage, Scaffidi, Semina, Semina, Semina, Sheng, Sheng, Sheng, Sheng, Shinkai, Shinoda, Simmons, Sisodiya, Sloop, Sloop, Sloop, Snabboon, Sobrier, Sobrier, Sobrier, Sornson, Stahl, Steger, Suh, Sun, Susa, Szeto, Szeto, Tajima, Tajima, Tajima, Takuma, Tang, Tatsumi, Tatsumi, Thomas, Thomas, Thomas, Thomas, Tierney, Tootle, Treier, Treier, Tremblay, Tremblay, Tremblay, Tremblay, Tsai, Turton, Turton, Urs, Vallette-Kasic, Vallette-Kasic, Vesper, Vieira, Vieira, Vimpani, Voutetakis, Voutetakis, Wales, Ward, Ward, Ward, Watanabe, Watanabe, Weintrob, Weiss, West, Williamson, Winnier, Wit, Wood, Woods, Wu, Wyatt, Xu, Yamada, Zenteno, Zhang, Zhao, Zhao, Zhu, Zhu, Zorn   +321 more
core   +2 more sources

Congenital hypopituitarism and renal failure

Indian Journal of Endocrinology and Metabolism, 2011
Congenital hypopituitarism is potentially fatal in the newborn period but treatable if the diagnosis is made early. We report a neonate who presented with hypothermia and severe hypoglycemia. He also had undescended testis and micropenis. Initial screening revealed panhypopituitarism, which was corrected promptly.
Gaurav Atreja, Porus Bustani
openaire   +3 more sources