Results 81 to 90 of about 15,132 (240)

Estrone and estradiol concentrations in human ovaries, testes, and adrenals during the first two years of life [PDF]

, 1987
To determine the origin of estrogens in infant blood, we measured estrone (E1) and estradiol (E2) in the gonads of 50 girls and 64 boys who died suddenly between birth and 2 yr of age as well as in the adrenals of 18 of these infant girls and 16 of the ...
Bidlingmaier, F., Dorr, H. G., Eisenmenger, Wolfgang, Knorr, D., Strom, T. M.   +4 more
core   +1 more source

Genetics of Growth Disorders-Which Patients Require Genetic Testing? [PDF]

, 2019
The second 360° European Meeting on Growth Hormone Disorders, held in Barcelona, Spain, in June 2017, included a session entitled Pragmatism vs. Curiosity in Genetic Diagnosis of Growth Disorders, which examined current concepts of genetics and growth in
Argente, J, Lehwalder, D, Pfäffle, R, Tatton-Brown, K   +3 more
core   +1 more source

Growth Hormone Treatment in Patients With KBG Syndrome: Novel Insights, Challenges and Recommendations From Six New Patients and Literature Review

American Journal of Medical Genetics Part A, Volume 197, Issue 12, December 2025.
ABSTRACT KBG syndrome is one of the most frequent neurodevelopmental disorders and is caused by ANKRD11 variants. Postnatal short stature is observed in ~50% of patients. Recombinant human growth hormone (rhGH) has become a valuable treatment for patients with growth hormone deficiency (GHD) along with Prader–Willi and Turner syndrome. Limited evidence
Sietse M. Aukema, Kim Vandenput, Emanuela Scarano, Himanshu Goel, Lily Guo, Michiel Vanneste, Koen Devriendt, Nitash Zwaveling‐Soonawala, Cordula Kiewert, Alma Kuechler, Ilaria Parenti, Eleonora Orlandini, Elke de Boer, Siddharth Banka, Elizabeth Wall, Gholson J. Lyon, Karen J. Low, Joyce M. Geelen, Yvonne G. van der Zwan, Charlotte W. Ockeloen   +19 more
wiley   +1 more source

Repair of Aberrant Splicing in Growth Hormone Receptor by Antisense Oligonucleotides Targeting the Splice Sites of a Pseudoexon [PDF]

, 2010
Context: The GH receptor (GHR) pseudoexon 6 Psi defect is a frequent cause of GH insensitivity (GHI) resulting from a non-functioning GH receptor (GHR). It results in a broad range of phenotypes and may also be present in patients diagnosed as idiopathic
Clark, AJL, David, A, Khoo, B, Metherell, LA, Srirangalingam, U   +4 more
core   +1 more source

Further Evidence That Chondrocalcinosis 1 (CCAL1) is a Confirmed Mendelian Phenotype With a Known Molecular Basis

American Journal of Medical Genetics Part A, Volume 197, Issue 12, December 2025.
ABSTRACT Chondrocalcinosis (CCAL), also known as calcium pyrophosphate dihydrate deposition disease (CPPDD), is a frequent multifactorial condition in the elderly, but there are two rare autosomal dominant Mendelian forms, CCAL1 (OMIM %600668) and CCAL2. Only three families with molecularly proven CCAL1 have been reported.
Anna‐Christina Pansa, Mareike Selig, Markus Wingendorf, Matthew A. Brown, Oliver Bartsch   +4 more
wiley   +1 more source

Craniofacial morphology in Turner syndrome patients treated with growth hormone [PDF]

, 2015
Introduction: In addition to well-established physical characteristics, Turner syndrome patients have distinct craniofacial morphology. Since short stature is the most typical characteristic, Turner syndrome patients are commonly treated with growth ...
Branislav Glisic, Evgenija Markovic, Ivana Scepan, Jovana Julsoki, Neda Stefanovic, Tina Pajevic   +5 more
core   +3 more sources

Causes of Short Stature in Children Referred to a Tertiary Care Center in Southeast of Iran: 2018-2020

Journal of Pediatrics Review, 2022
Background: Short stature is a common problem encountered by endocrinologists. Short stature may be due to normal variations of growth or pathologic process.
Vahid Sheikhi, Shamim Bonyadi, Zahra Heidari   +2 more
doaj  

Comparative efficacy of mono- and combined therapy for idiopathic short stature with delayed puberty

Mìžnarodnij Endokrinologìčnij Žurnal, 2018
Background. Growth hormone therapy for idio­pathic short stature (ISS) is a subject of debate, because of the heterogeneous endocrine profile in these children.
G.N. Rakhimova, K.N. Gilyazetdinov
doaj   +1 more source

Sudden upper airway obstruction during catatonia treatment: A case of nasogastric tube syndrome

Psychiatry and Clinical Neurosciences Reports, Volume 4, Issue 4, December 2025.
Abstract Background Nasogastric tube syndrome (NGTS) is a rare yet potentially life‐threatening complication caused by prolonged compression of the laryngeal structures by a nasogastric tube, resulting in bilateral vocal fold paralysis and acute upper airway obstruction.
Kota Mukasa, Masaya Mashimoto, Yasunori Nakata, Fumihiko Sato, Hiromi Chiba, Motohiro Ozone   +5 more
wiley   +1 more source

Behavioral evaluation of GH treatment in short statured children and adolescents: Findings from a pilot study [PDF]

, 2018
A cohort of 93 short-statured children and adolescents undergoing GH treatment were evaluated with respect to behavior, emotions, and attitudes. The sample consisted of patients suffering from either idiopathic GH deficiency or neurosecretory dysfunction
Dörr, H., Malin, Z., Steinhausen, H.
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