[HTML][HTML] Male hypogonadism due to a mutation in the gene for the β-subunit of follicle-stimulating hormone
M Phillip, JE Arbelle, Y Segev… - New England Journal of …, 1998 - Mass Medical Soc
Normal pubertal development and fertility depend on the intricate interplay of hypothalamic,
pituitary, and gonadal factors. Crucial in this respect are normal secretory patterns of follicle …
pituitary, and gonadal factors. Crucial in this respect are normal secretory patterns of follicle …
Primary amenorrhoea and infertility due to a mutation in the β–subunit of follicle–stimulating hormone
CH Matthews, S Borgato, P Beck-Peccoz, M Adams… - Nature …, 1993 - nature.com
We report a woman with primary amenorrhoea and infertility associated with an isolated
deficiency of pituitary follicle–stimulating hormone (FSH), but normal luteinizing hormone …
deficiency of pituitary follicle–stimulating hormone (FSH), but normal luteinizing hormone …
Follitropin (FSH) deficiency in an infertile male due to FSHβ gene mutation. A syndrome of normal puberty and virilization but under-developed testicles with …
G Lindstedt, E Nyström, C Matthews, I Ernest… - 1998 - degruyter.com
We studied a man who sought medical attention at age 28 years because of infertility in both
his first and second marriages. His sexual development appeared to have been normal, with …
his first and second marriages. His sexual development appeared to have been normal, with …
[HTML][HTML] Delayed puberty and hypogonadism caused by mutations in the follicle-stimulating hormone β-subunit gene
LC Layman, EJ Lee, DB Peak… - … England Journal of …, 1997 - Mass Medical Soc
The pituitary gonadotropins luteinizing hormone and follicle-stimulating hormone (FSH)
regulate the production of sex steroids necessary for pubertal development and fertility …
regulate the production of sex steroids necessary for pubertal development and fertility …
Delayed puberty and primary amenorrhea associated with a novel mutation of the human follicle-stimulating hormone receptor: clinical, histological, and molecular …
G Meduri, P Touraine, I Beau, O Lahuna… - The Journal of …, 2003 - academic.oup.com
Inactivating mutations of the FSH receptor have been described in rare cases of premature
ovarian failure. Only one mutation was associated with a complete phenotype, including …
ovarian failure. Only one mutation was associated with a complete phenotype, including …
Clinical manifestations of genetic defects affecting gonadotrophins and their receptors.
GS Conway - Clinical endocrinology, 1996 - europepmc.org
Raised activity of the LH axis caused by activating mutations of LH receptor gene presents
with precocious puberty in boys, analogous to the presentation of LH secreting pituitary …
with precocious puberty in boys, analogous to the presentation of LH secreting pituitary …
Mutations along the pituitary–gonadal axis affecting sexual maturation: novel information from transgenic and knockout mice
I Huhtaniemi - Molecular and cellular endocrinology, 2006 - Elsevier
During the last 10 years, numerous activating and inactivating mutations have been
detected in the genes encoding the two gonadotrophins, luteinising hormone (LH) and …
detected in the genes encoding the two gonadotrophins, luteinising hormone (LH) and …
Mutations of follicle stimulating hormone-β and its receptor in human and mouse: genotype/phenotype
LC Layman, PG McDonough - Molecular and cellular endocrinology, 2000 - Elsevier
The pituitary gonadotropin follicle stimulating hormone (FSH) interacts with its membrane-
bound receptor, to produce biologic effects. Traditional functions of FSH include, follicular …
bound receptor, to produce biologic effects. Traditional functions of FSH include, follicular …
The Parkes lecture. Mutations of gonadotrophin and gonadotrophin receptor genes: what do they teach us about reproductive physiology?
I Huhtaniemi - Reproduction, 2000 - rep.bioscientifica.com
Although mutations in human gonadotrophin and gonadotrophin receptor genes are rare,
they have greatly elucidated the physiology and pathophysiology of gonadotrophin action …
they have greatly elucidated the physiology and pathophysiology of gonadotrophin action …
A novel loss of function mutation in exon 10 of the FSH receptor gene causing hypergonadotrophic hypogonadism: clinical and molecular characteristics
LA Allen, JC Achermann, P Pakarinen… - Human …, 2003 - academic.oup.com
BACKGROUND: Inactivating mutations of the FSH receptor (FSHR) are a rare cause of
hypergonadotrophic hypogonadism in women. Only one patient with primary amenorrhoea …
hypergonadotrophic hypogonadism in women. Only one patient with primary amenorrhoea …