Results 1 to 10 of about 26,242 (140)

Whole Exome Sequencing Points towards a Multi-Gene Synergistic Action in the Pathogenesis of Congenital Combined Pituitary Hormone Deficiency [PDF]

Cells, 2022
Combined pituitary hormone deficiency (CPHD) is characterized by deficiency of growth hormone and at least one other pituitary hormone. Pathogenic variants in more than 30 genes expressed during the development of the head, hypothalamus, and/or pituitary
Amalia Sertedaki, Elizabeth-Barbara Tatsi, Irène Fylaktou   +2 more
exaly   +4 more sources

Growth without growth hormone in combined pituitary hormone deficiency caused by pituitary stalk interruption syndrome. [PDF]

Ann Pediatr Endocrinol Metab, 2017
Growth hormone (GH) is an essential element for normal growth. However, reports of normal growth without GH have been made in patients who have undergone brain surgery for craniopharyngioma.
Lee SS, Han AL, Ahn MB, Kim SH, Cho WK, Cho KS, Park SH, Jung MH, Suh BK.   +8 more
europepmc   +4 more sources

SEMA3A and IGSF10 Are Novel Contributors to Combined Pituitary Hormone Deficiency (CPHD). [PDF]

Front Endocrinol (Lausanne), 2020
Background: The mutation frequencies of pituitary transcription factors genes in patients with combined pituitary hormone deficiencies (CPHD) vary substantially between populations.
Budny B, Zemojtel T, Kaluzna M, Gut P, Niedziela M, Obara-Moszynska M, Rabska-Pietrzak B, Karmelita-Katulska K, Stajgis M, Ambroziak U, Bednarczuk T, Wrotkowska E, Bukowska-Olech E, Jamsheer A, Ruchala M, Ziemnicka K.   +15 more
europepmc   +5 more sources

Identification of a Novel PROP1 Mutation in a Patient with Combined Pituitary Hormone Deficiency and Enlarged Pituitary [PDF]

International Journal of Molecular Sciences, 2019
Growth hormone deficiency (GHD) can be present from the neonatal period to adulthood and can be the result of congenital or acquired insults. In addition, GHD can be classified into two types: isolated growth hormone deficiency (IGHD) and combined pituitary hormone deficiency (CPHD).
Laura Penta, Carla Bizzarri, Antonio Novelli   +2 more
exaly   +6 more sources

Association of Homozygous PROP1 Mutation in a Saudi Family with Combined Pituitary Hormone Deficiency. [PDF]

Medicina (Kaunas), 2023
Background and Objectives: Combined pituitary hormone deficiency (CPHD) is a rare heterogeneous disease. It is characterized by the deficiency of growth hormone (GH) and shortage of at least one or more other hormones of the pituitary gland including ...
Almatrafi AM, Hibshi AM, Basit S.
europepmc   +2 more sources

Novel STAR gene variant in a patient with classic lipoid congenital adrenal hyperplasia and combined pituitary hormone deficiency. [PDF]

Hum Genome Var, 2021
We report the first case of classic lipoid congenital adrenal hyperplasia and combined pituitary hormone deficiency. We identified pathogenic variants in the STAR gene: a novel variant of c.126_127delCCinsG, namely, p.Thr44Profs*2 and an already reported
Higa M, Zaha A, Takushi A, Morishima N, Majikina T, Touma T, Shimabukuro M, Masuzaki H, Honda M, Hasegawa T.   +9 more
europepmc   +2 more sources

Progression from isolated growth hormone deficiency to combined pituitary hormone deficiency [PDF]

Growth Hormone and IGF Research, 2017
Growth hormone deficiency (GHD) can present at any time of life from the neonatal period to adulthood, as a result of congenital or acquired insults. It can present as an isolated problem (IGHD) or in combination with other pituitary hormone deficiencies (CPHD). Pituitary deficits can evolve at any time from GHD diagnosis.
Mehul T Dattani
exaly   +4 more sources

Combined Pituitary Hormone Deficiency in lhx4-Knockout Zebrafish. [PDF]

Int J Mol Sci
LIM homeobox 4 (LHX4) is a transcription factor crucial for anterior pituitary (AP) development. Patients with LHX4 mutation suffer from combined pituitary hormone deficiency (CPHD), short statures, reproductive and metabolic disorders and lethality in some cases. Lhx4-knockout (KO) mice fail to develop a normal AP and die shortly after birth. Here, we
Roisman-Geller N, Pisanty O, Weinberger A, Gajbhiye DS, Golan M, Gothilf Y.   +5 more
europepmc   +3 more sources

Progression from isolated growth hormone deficiency to a combined pituitary hormone deficiency in a cohort of paediatrics patients with pituitary morphology abnormalities on MRI. [PDF]

BMC Endocr Disord
Objective To evaluate the baseline and follow-up clinical and radiological characteristics of a paediatric cohort initially diagnosed with isolated congenital growth hormone deficiency (IGHD) and pituitary morphology abnormality in MRI.
Aguilar-Riera C, Yeste D, González-Llorens N, Mogas E, Campos-Martorell A, Fernandez-Alvarez P, Vázquez E, Clemente M.   +7 more
europepmc   +2 more sources

Growth Hormone Is Beneficial for Induction of Spermatogenesis in Adult Patients With Congenital Combined Pituitary Hormone Deficiency. [PDF]

Front Endocrinol (Lausanne), 2022
BackgroundGonadotropins are effective in inducing spermatogenesis in patients with congenital combined pituitary hormone deficiency (CCPHD). Data on recombinant human growth hormone(rhGH) adjuvant treatment to improve gonadotropin-induced spermatogenesis
Zhu Y, Nie M, Wang X, Huang Q, Yu B, Zhang R, Zhang J, Sun B, Mao J, Wu X.   +9 more
europepmc   +2 more sources