Author(s):  
S. L. Davis ◽  
K. L. Hossner ◽  
D. L. Ohlson

1999 ◽  
Vol 54 (5) ◽  
pp. 147-150 ◽  
Author(s):  
Débora Romeo Bertola ◽  
Sofia M. M. Sugayama ◽  
Lilian Maria José Albano ◽  
Ae Kim Chong ◽  
Claudette Hajaj Gonzalez

Noonan syndrome is a multiple congenital anomaly syndrome, inherited in an autosomal dominant pattern. We studied 31 patients (18 males and 13 females) affected by this disorder regarding their clinical and genetic characteristics. The most frequent clinical findings were short stature (71%); craniofacial dysmorphisms, especially hypertelorism, ptosis, downslanting of the palpebral fissures; short or webbed neck (87%); cardiac anomalies (65%), and fetal pads in fingers and toes (70%). After studying the probands' first-degree relatives, we made the diagnosis of Noonan syndrome in more than one family member in three families. Therefore, the majority of our cases were sporadic.


2012 ◽  
Vol 73 (4) ◽  
pp. 251-252
Author(s):  
A. De Rocca Serra-Nédélec ◽  
T. Edouard ◽  
K. Tréguer ◽  
M. Tajan ◽  
T. Araki ◽  
...  
Keyword(s):  

2021 ◽  
Vol 11 ◽  
Author(s):  
Emilio J. Vélez ◽  
Suraj Unniappan

Growth hormone (GH), mainly produced from the pituitary somatotrophs is a key endocrine regulator of somatic growth. GH, a pleiotropic hormone, is also involved in regulating vital processes, including nutrition, reproduction, physical activity, neuroprotection, immunity, and osmotic pressure in vertebrates. The dysregulation of the pituitary GH and hepatic insulin-like growth factors (IGFs) affects many cellular processes associated with growth promotion, including protein synthesis, cell proliferation and metabolism, leading to growth disorders. The metabolic and growth effects of GH have interesting applications in different fields, including the livestock industry and aquaculture. The latest discoveries on new regulators of pituitary GH synthesis and secretion deserve our attention. These novel regulators include the stimulators adropin, klotho, and the fibroblast growth factors, as well as the inhibitors, nucleobindin-encoded peptides (nesfatin-1 and nesfatin-1–like peptide) and irisin. This review aims for a comparative analysis of our current understanding of the endocrine regulation of GH from the pituitary of vertebrates. In addition, we will consider useful pharmacological molecules (i.e. stimulators and inhibitors of the GH signaling pathways) that are important in studying GH and somatotroph biology. The main goal of this review is to provide an overview and update on GH regulators in 2020. While an extensive review of each of the GH regulators and an in-depth analysis of specifics are beyond its scope, we have compiled information on the main endogenous and pharmacological regulators to facilitate an easy access. Overall, this review aims to serve as a resource on GH endocrinology for a beginner to intermediate level knowledge seeker on this topic.


2018 ◽  
Vol 34 (7-8) ◽  
pp. 216-20
Author(s):  
Dina D. ◽  
Soetjiningsih Soetjiningsih ◽  
Hamid A. ◽  
Sudaryat S.

A case of Noonan syndrome in an Indonesian baby boy is reported. The diagnosis was based on history, physical examination and abnormalities on Denver Development Screening Test and Vineland Social Maturity Scale. Treatment consisted of hormonal therapy for cryptorchidism and short stature, physiotherapy, and surgical correction cryptorchidism and cardiac anomaly if necessary. The prognosis for life span was good.


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