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 …

Cardiovascular risk and testosterone–from subclinical atherosclerosis to lipoprotein function to heart failure

B Gencer, M Bonomi, MP Adorni, CR Sirtori… - Reviews in Endocrine …, 2021 - Springer
The cardiovascular (CV) benefit and safety of treating low testosterone conditions is a matter
of debate. Although testosterone deficiency has been linked to a rise in major adverse CV …

Molecular genetic diagnostics of hypogonadotropic hypogonadism: from panel design towards result interpretation in clinical practice

H Butz, G Nyírő, PA Kurucz, I Likó, A Patócs - Human Genetics, 2021 - Springer
Congenital hypogonadotropic hypogonadism (CHH) is a clinically and genetically
heterogeneous congenital disease. Symptoms cover a wide spectrum from mild forms to …

Genetics of hypogonadotropic Hypogonadism—Human and mouse genes, inheritance, oligogenicity, and genetic counseling

ED Louden, A Poch, HG Kim, A Ben-Mahmoud… - Molecular and cellular …, 2021 - Elsevier
Hypogonadotropic hypogonadism, which may be normosmic (nHH) or anosmic/hyposmic,
known as Kallmann syndrome (KS), is due to gonadotropin-releasing hormone deficiency …

Genetic evaluation supports differential diagnosis in adolescent patients with delayed puberty

T Saengkaew, HR Patel, K Banerjee… - European Journal of …, 2021 - academic.oup.com
Context Pubertal delay can be the clinical presentation of both idiopathic hypogonadotropic
hypogonadism (IHH) and self-limited delayed puberty (SLDP). Distinction between these …

The differential roles for neurodevelopmental and neuroendocrine genes in shaping GnRH neuron physiology and deficiency

R Oleari, V Massa, A Cariboni, A Lettieri - International Journal of …, 2021 - mdpi.com
Gonadotropin releasing hormone (GnRH) neurons are hypothalamic neuroendocrine cells
that control sexual reproduction. During embryonic development, GnRH neurons migrate …

Tachykinin signaling is required for induction of the preovulatory luteinizing hormone surge and normal luteinizing hormone pulses

S León, C Fergani, R Talbi, CA Maguire… - …, 2021 - karger.com
Abstract Tachykinins (neurokinin A [NKA], neurokinin B [NKB], and substance P [SP]) are
important components of the neuroendocrine control of reproduction by direct stimulation of …

Puberty in the female and its disorders

RL Rosenfield, DW Cooke, S Radovick - Sperling Pediatric Endocrinology, 2021 - Elsevier
This chapter begins with a basic science update on the development of the female
reproductive system. This starts with sections on maturation of the neuroendocrine-ovarian …

Neuroendocrine regulation of pubertal suppression in the naked mole-rat: What we know and what comes next

M Faykoo-Martinez, LM Kalinowski… - Molecular and Cellular …, 2021 - Elsevier
Puberty is a key developmental milestone that marks an individual's maturation in several
ways including, but not limited to, reproductive maturation, changes in behaviors and neural …

Puberty and its disorders in the male

MR Palmert, YM Chan, L Dunkel - Sperling Pediatric Endocrinology, 2021 - Elsevier
In this chapter we discuss the development of the hypothalamic-pituitary-gonadal (HPG) axis
followed by a description of the physiology of the HPG axis, with a focus on its dynamic …