The role of mutations affecting gonadotrophin secretion and action in disorders of pubertal development

2002 ◽  
Vol 16 (1) ◽  
pp. 123-138 ◽  
Author(s):  
Ilpo T. Huhtaniemi
Keyword(s):  
Pubertal Development ◽  
Gonadotrophin Secretion

scholarly journals Kisspeptin across the human lifespan:evidence from animal studies and beyond

2016 ◽  
Vol 229 (3) ◽  
pp. R83-R98 ◽  
Author(s):  
Sophie A Clarke ◽  
Waljit S Dhillo
Keyword(s):  
Genetic Testing ◽  
Animal Studies ◽  
Pubertal Development ◽  
Hormone Secretion ◽  
Large Body ◽  
Healthy Development ◽  
Knockout Animal ◽  
Gonadotrophin Secretion ◽  
Gonadotrophin Releasing Hormone

Since its first description in 1996, the KISS1 gene and its peptide products, kisspeptins, have increasingly become recognised as key regulators of reproductive health. With kisspeptins acting as ligands for the kisspeptin receptor KISS1R (previously known as GPR54 or KPR54), recent work has consistently shown that administration of kisspeptin across a variety of species stimulates gonadotrophin release through influencing gonadotrophin-releasing hormone secretion. Evidence from both animal and human studies supports the finding that kisspeptins are crucial for ensuring healthy development, with knockout animal models, as well as proband genetic testing in human patients affected by abnormal pubertal development, corroborating the notion that a functional kisspeptin receptor is required for appropriate gonadotrophin secretion. Given the large body of evidence that exists surrounding the influence of kisspeptin in a variety of settings, this review summarises our physiological understanding of the role of these important peptides and their receptors, before proceeding to describe the varying role they play across the reproductive lifespan.

scholarly journals Evolutionary Conservation of MKRN3 and Other Makorins and Their Roles in Puberty Initiation and Endocrine Functions

2019 ◽  
Vol 37 (04) ◽  
pp. 166-173 ◽  
Author(s):  
Lydie Naulé ◽  
Ursula B. Kaiser
Keyword(s):  
Wide Spectrum ◽  
Pubertal Timing ◽  
Pubertal Development ◽  
Protein Structures ◽  
Ring Finger ◽  
Central Precocious Puberty ◽  
Evolutionary Conservation ◽  
Loss Of Function ◽  
Underlying Mechanisms

AbstractPuberty is a critical period of development regulated by genetic, nutritional, and environmental factors. The role of makorin ring finger protein 3 (MKRN3) in the regulation of pubertal timing was revealed when loss-of-function mutations were identified in patients with central precocious puberty (CPP). To date, MKRN3 mutations are the most common known genetic cause of CPP. MKRN3 is a member of the makorin family of ubiquitin ligases, together with MKRN1 and MKRN2. The Mkrn genes have been identified in both vertebrates and invertebrates and show high evolutionary conservation of their gene and protein structures. While the existence of Mkrn orthologues in a wide spectrum of species suggests a vital cellular role of the makorins, their role in puberty initiation and endocrine functions is just beginning to be investigated. In this review, we discuss recent studies that have shown the involvement of Mkrn3 and other makorins in the regulation of pubertal development and other endocrine functions, including metabolism and fertility, as well as their underlying mechanisms of action.

Role of the Gonads in Control of Blood Pressure in Chickens

1957 ◽  
Vol 190 (1) ◽  
pp. 54-56 ◽  
Author(s):  
Robert K. Ringer ◽  
P. D. Sturkie ◽  
H. S. Weiss
Keyword(s):  
Blood Pressure ◽  
Sex Difference ◽  
Ovarian Activity ◽  
Adult Chicken ◽  
Sexual Stimulation ◽  
Gonadotrophin Secretion ◽  
Pressure Changes

Blood pressure changes in gonadectomized and gonadotrophin-treated chicks were utilized to determine the role of the gonads in establishing and maintaining the sex difference in pressure of the adult chicken. By the 23rd week, 4–5 weeks after the normal rise in male pressure, both capon and poulard pressures had climbed to near the male level and significantly above the female. This confirms that androgen is not essential to the rise in pressure, and indicates that other than ovarian activity, nothing inherent in the female prevents the rise. Furthermore, elevated poulard pressures could be depressed to near female levels with estrogen or 2-amino,5-nitrothiazole, presumably through suppression of pituitary gonadotrophin secretion. Exogenous gonadotrophin failed to change the pressure of the chick prematurely, despite marked sexual stimulation, suggesting that chronological maturation, possibly independent of the pituitary-gonad interrelationship, is a prerequisite.

The role of oestrogens on gonadotrophin secretion in the testicular feminization syndrome1

1980 ◽  
Vol 95 (3) ◽  
pp. 314-318 ◽  
Author(s):  
Martha Medina ◽  
Alfredo Ulloa-Aguirre ◽  
Maria A. Fernández ◽  
Gregorio Pérez-palacios
Keyword(s):  
Clomiphene Citrate ◽  
Poor Response ◽  
Testicular Feminization ◽  
Normal Response ◽  
Serum Lh ◽  
Gonadotrophin Secretion ◽  
Before And After ◽  
Complete Form ◽  
Lh Secretion

Abstract. The role of oestrogens on gonadotrophin secretion was assessed in three related patients with the complete form of testicular feminization syndrome. Serum LH and FSH levels were measured before and after I.RH stimulation as well as before, during and after chronic clomiphene citrate administration. Moderately elevated LH basal levels with a significant LH rise following I.RH were observed. Normal or even low FSH level with poor response to LRH were found in all subjects. Administration of clomiphene citrate resulted in a significant serum LH increase without any change of FSH. Following castration both LH and FSH rose and a normal response to LRH was observed. These results were interpreted as demonstrating that, while endogenous oestrogens modulate LH secretion in patients with androgen unresponsiveness, it plays no role in regulating FSH secretion and suggested that a factor of testicular origin without androgenic or oestrogenic activity is responsible for FSH regulation.

PRIMING EFFECT OF LUTEINIZING HORMONE RELEASING FACTOR IN VITRO: ROLE OF PROTEIN SYNTHESIS, CONTRACTILE ELEMENTS, Ca2+ AND CYCLIC AMP

1979 ◽  
Vol 81 (3) ◽  
pp. 223-234 ◽  
Author(s):  
A. J.-M. C. PICKERING ◽  
G. FINK
Keyword(s):  
Protein Synthesis ◽  
Luteinizing Hormone ◽  
Rna Polymerase Ii ◽  
Priming Effect ◽  
First Response ◽  
Gonadotrophin Secretion ◽  
Intracellular Ca ◽  
Cyclic Phosphate

The mechanism of the priming effect of luteinizing hormone releasing factor (LH-RF) upon gonadotrophin secretion was studied using short-term incubation of hemipituitary glands from pro-oestrous rats. The dependence of the priming, but not the LH releasing action of LH-RF on protein synthesis in pituitary tissue was confirmed. Cytochalasin B failed to affect the first response to LH-RF, but abolished the priming effect, suggesting that the integrity of cellular microfilaments was essential. Colchicine and vinblastine did not modify the response to LH-RF. Neither inhibitors of DNA nor the inhibitor of RNA polymerase II, α-amanitin, significantly affected the priming action of LH-RF. Normal extracellular concentrations of Ca2+ were necessary for gonadotrophin release, but the priming effect was not significantly affected by low extracellular Ca2+ and could not be elicited by raising intracellular Ca2+ concentrations. Adenosine 3′:5′-cyclic phosphate did not appear to act as a second messenger for either the gonadotrophin releasing or the priming action of LH-RF.

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