Understanding the genetics of human infertility

Q Sang, PF Ray, L Wang - Science, 2023 - science.org
Reproduction involves a wide range of biological processes, including organ formation and
development, neuroendocrine regulation, hormone production, and meiosis and mitosis …

International consensus statement on allergy and rhinology: olfaction

ZM Patel, EH Holbrook, JH Turner… - International forum of …, 2022 - Wiley Online Library
Background The literature regarding clinical olfaction, olfactory loss, and olfactory
dysfunction has expanded rapidly over the past two decades, with an exponential rise in the …

Male infertility

A Agarwal, S Baskaran, N Parekh, CL Cho, R Henkel… - The Lancet, 2021 - thelancet.com
It is estimated that infertility affects 8–12% of couples globally, with a male factor being a
primary or contributing cause in approximately 50% of couples. Causes of male subfertility …

[HTML][HTML] Genetics of azoospermia

F Cioppi, V Rosta, C Krausz - International Journal of Molecular Sciences, 2021 - mdpi.com
Azoospermia affects 1% of men, and it can be due to:(i) hypothalamic-pituitary
dysfunction,(ii) primary quantitative spermatogenic disturbances,(iii) urogenital duct …

Genetics of congenital hypogonadotropic hypogonadism: peculiarities and phenotype of an oligogenic disease

B Cangiano, DS Swee, R Quinton, M Bonomi - Human genetics, 2021 - Springer
A genetic basis of congenital isolated hypogonadotropic hypogonadism (CHH) can be
defined in almost 50% of cases, albeit not necessarily the complete genetic basis. Next …

Hypothalamo-Pituitary axis and puberty

M Spaziani, C Tarantino, N Tahani, D Gianfrilli… - Molecular and cellular …, 2021 - Elsevier
Puberty is a complex process that culminates in the acquisition of psychophysical maturity
and reproductive capacity. This elaborate and fascinating process marks the end of …

NOS1 mutations cause hypogonadotropic hypogonadism with sensory and cognitive deficits that can be reversed in infantile mice

K Chachlaki, A Messina, V Delli, V Leysen… - Science translational …, 2022 - science.org
The nitric oxide (NO) signaling pathway in hypothalamic neurons plays a key role in the
regulation of the secretion of gonadotropin-releasing hormone (GnRH), which is crucial for …

Central precocious puberty: recent advances in understanding the aetiology and in the clinical approach

L Maione, C Bouvattier, UB Kaiser - Clinical endocrinology, 2021 - Wiley Online Library
Central precocious puberty (CPP) results from early activation of the hypothalamic‐pituitary‐
gonadal (HPG) axis. The current state of knowledge of the complex neural network acting at …

[HTML][HTML] Hypogonadism and cryptorchidism

W Rodprasert, HE Virtanen, JA Mäkelä… - Frontiers in …, 2020 - frontiersin.org
Congenital cryptorchidism (undescended testis) is one of the most common congenital
urogenital malformations in boys. Prevalence of cryptorchidism at birth among boys born …

[HTML][HTML] Follicle-stimulating hormone (FSH) action on spermatogenesis: a focus on physiological and therapeutic roles

D Santi, P Crépieux, E Reiter, G Spaggiari… - Journal of Clinical …, 2020 - mdpi.com
Background: Human reproduction is regulated by the combined action of the follicle-
stimulating hormone (FSH) and the luteinizing hormone (LH) on the gonads. Although FSH …