"Familial male-limited precocious puberty"

Familial Male-Limited Precocious Puberty (FMPP) and Testicular Germ Cell Tumors. The purpose of this study is to report development of a malignant testicular germ cell tumor (GCT) in two young adult males with Familial Male-limited Precocious Puberty (FMPP) due to (LHCGR) pathogenic variants in two families. Secondary, to study the possible relation between FMPP and testicular tumors

A Case of Familial Male-Limited Precocious Puberty in a Child With Klinefelter Syndrome Familial male-limited precocious puberty (FMPP) is an autosomal dominant, male-limited disorder that causes peripheral precocious puberty in boys. Klinefelter syndrome (47, XXY) is the most common chromosomal aberration in males with associated infertility, hypogonadism, and learning disability. We report here

Familial male-limited precocious puberty (testotoxicosis) Suggested Reference and Additional Reading: Gad B. Kletter, Karen O. Klein, Yolanda Y. Wong . A pediatrician's guide to central precocious puberty. Clinical Pediatrics 2015 May; 54(5):414-24 Author: Deanna Adkins Copyright © 2020 Pediatric Endocrine Society. Education Committee

(PPP), is gonadotropin-independent, and the presence of sex steroids is independent of pituitary gonadotropin release. [3, 4, 5] The etiology of PPP can be categorized into either genetic or acquired disorders, and some vary by gender. Congenital or genetic causes include McCune-Albright syndrome(MAS), familial male-limited precocious puberty (FMPP), and congenital adrenal hyperplasia(CAH). Acquired pathophysiology varies with the underlying cause of precocious puberty. [4] Previous Next: EtiologyThe etiologies of PPP can vary between boys and girls and include production of sex steroids by the gonad in an unregulated fashion, such as inMcCune-Albright syndrome(MAS) or familial male-limited precocious puberty (FMPP); sex steroid secretion by the adrenal gland as occurs incongenital adrenal hyperplasia(CAH

Effect of Antiandrogen, Aromatase Inhibitor, and Gonadotropin-releasing Hormone Analog on Adult Height in Familial Male Precocious Puberty. Antiandrogen, aromatase inhibitor, and gonadotropin-releasing hormone analog (GnRHa) treatment normalizes growth rate and bone maturation and increases predicted adult height (AH) in boys with familial male-limited precocious puberty (FMPP). To evaluate

Hyperplasia in a gland with hormone excess. Five syndromes share predominantly hyperplastic glands with a primary excess of hormones: neonatal severe primary hyperparathyroidism, from homozygous mutated CASR, begins severely in utero; congenital non-autoimmune thyrotoxicosis, from mutated TSHR, varies from severe with fetal onset to mild with adult onset; familial male-limited precocious puberty

. Attenuation of linear growth velocity and rate of skeletal maturation in order to maximize height potential are additional considerations for many patients. McCune-Albright syndrome (MAS) and familial male-limited precocious puberty (FMPP) represent rare causes of PPP that arise from activating mutations in GNAS1 and the LH receptor gene, respectively. Several different therapeutic approaches have been

bone age (BA) >1 year above the chronological age (CA), and (3) peak values of pubertal luteinizing hormone (LH) (cutoff value: ＞5 IU/L) achieved during a GnRH stimulation test.Exclision criteria:Those boys with negative results in the GnRH stimulation test and non-idiopathic CPP (such as isosexual precocious puberty, familial male-limited precocious puberty, or familial precocious puberty) were

. 2016. 29:230-9. [QxMD MEDLINE Link]. [Full Text]. 17. Leschek EW, Jones J, Barnes KM, et al. Six-year results of spironolactone and testolactone treatment of familial male-limited precocious puberty with addition of deslorelin after central puberty onset. J Clin Endocrinol Metab. 1999 Jan. 84(1):175-8. [QxMD MEDLINE Link]. 18. Sathasivam A, Garibaldi L, Shapiro S, Godbold J

(PPP), is gonadotropin-independent, and the presence of sex steroids is independent of pituitary gonadotropin release. [3, 4, 5] The etiology of PPP can be categorized into either genetic or acquired disorders, and some vary by gender. Congenital or genetic causes include McCune-Albright syndrome(MAS), familial male-limited precocious puberty (FMPP), and congenital adrenal hyperplasia(CAH). Acquired pathophysiology varies with the underlying cause of precocious puberty. [4] Previous Next: EtiologyThe etiologies of PPP can vary between boys and girls and include production of sex steroids by the gonad in an unregulated fashion, such as inMcCune-Albright syndrome(MAS) or familial male-limited precocious puberty (FMPP); sex steroid secretion by the adrenal gland as occurs incongenital adrenal hyperplasia(CAH

(PPP), is gonadotropin-independent, and the presence of sex steroids is independent of pituitary gonadotropin release. [3, 4, 5] The etiology of PPP can be categorized into either genetic or acquired disorders, and some vary by gender. Congenital or genetic causes include McCune-Albright syndrome(MAS), familial male-limited precocious puberty (FMPP), and congenital adrenal hyperplasia(CAH). Acquired pathophysiology varies with the underlying cause of precocious puberty. [4] Previous Next: EtiologyThe etiologies of PPP can vary between boys and girls and include production of sex steroids by the gonad in an unregulated fashion, such as inMcCune-Albright syndrome(MAS) or familial male-limited precocious puberty (FMPP); sex steroid secretion by the adrenal gland as occurs incongenital adrenal hyperplasia(CAH

with precocious puberty and Leydig cell hyperplasia. To generate a mouse model for the human disease, we have introduced an aspartic acid to glycine mutation in amino acid residue 582 (D582G) of the mouse LHR gene corresponding to the most common D578G mutation found in boys with familial male-limited precocious puberty (FMPP). In transfected cells, mouse D582G mLHR exhibited constitutive activity with a 23

Adult height after ketoconazole treatment in patients with familial male-limited precocious puberty. Familial male-limited precocious puberty is a rare cause of precocious puberty due to activating mutations of the LH receptor, leading to early onset virilization and short stature. Two therapeutic approaches have been proposed: the P450 cytochrome inhibitor ketoconazole or combined treatment activation of the gonadotropic axis. Liver tolerance was excellent, and only one patient had a transient and modest increase in serum transaminases. We conclude that ketoconazole is an efficient and well tolerated long-term treatment of familial male-limited precocious puberty that should be proposed as a first line therapy.

Activating mutations in the luteinizing hormone receptor gene: a human model of non-follicle-stimulating hormone-dependent inhibin production and germ cell maturation. Familial male-limited precocious puberty is a dominant autosomal genetic disease caused by activating LH receptor gene mutations, clinically expressed only in males. In preliminary studies, in addition to the expected testosterone . Familial male-limited precocious puberty is a unique model of inhibin B secretion, demonstrating that Leydig cells can produce significant amounts of the dimeric molecule. Our results also suggest that the pubertal FSH rise is not required for full expression of the two inhibin B genes and for the initiation of germ cell maturation.

increased uterine length and increased uterine and ovarian volume in girls. It is confirmed by screening of basal luteinizing hormone LH levels (Differential diagnosisDifferential diagnosis includes gonadotropin-independent precocious puberty (including familial male-limited precocious puberty, McCune-Albright syndrome (see these terms)), gonadal tumours, and benign premature thelarche or pubarche.Genetic

to antiandrogen and gonadotropin-releasing hormone analogue (GnRHa), therapy for children with familial male-limited precocious puberty (FMPP) and congenital adrenal hyperplasia (CAH), and with some success in girls with McCune-Albright syndrome. The limitations of testolactone include its relatively low potency and the need for frequent dosing. Results of a randomized placebo-controlled trial in boys

skeletal maturation tend to hasten the onset of puberty. To examine this relationship, we studied boys with congenital adrenal hyperplasia (n = 13) and familial male-limited precocious puberty (n = 22), two conditions that accelerate maturational tempo, and boys with idiopathic short stature (n = 18) in which maturational tempo is sometimes delayed. In all three conditions, the onset of central puberty

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Treatment of familial male-limited precocious puberty with bicalutamide and anastrozole. This report describes the use of bicalutamide and anastrozole in two subjects with familial male-limited precocious puberty. Clinical improvements include decreased facial acne and pubic hair. Most importantly, a marked decrease in growth velocity and skeletal advancement has been achieved.

Variable presentation of precocious puberty associated with the D564G mutation of the LHCGR gene in children with testotoxicosis. We report on a family with familial male-limited precocious puberty (FMPP) due to a D564G mutation of the LHCGR gene. Family members show a varied phenotypic expression from severe precocity unresponsive to therapy with compromise of the predicted final height in some