New developments in the biology of fibroblast growth factors

DM Ornitz, N Itoh - WIREs mechanisms of disease, 2022 - Wiley Online Library
The fibroblast growth factor (FGF) family is composed of 18 secreted signaling proteins
consisting of canonical FGFs and endocrine FGFs that activate four receptor tyrosine …

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 …

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 …

Panel testing for the molecular genetic diagnosis of congenital hypogonadotropic hypogonadism–a clinical perspective

Y Al Sayed, SR Howard - European Journal of Human Genetics, 2023 - nature.com
Congenital hypogonadotropic hypogonadism (CHH) is a rare endocrine disorder that results
in reproductive hormone deficiency and reduced potential for fertility in adult life. Discoveries …

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 …

Oligogenic origin of differences of sex development in humans

N Camats, CE Flück, L Audí - International journal of molecular sciences, 2020 - mdpi.com
Sex development is a very complex biological event that requires the concerted
collaboration of a large network of genes in a spatial and temporal correct fashion. In the …

GnRH Deficient Patients With Congenital Hypogonadotropic Hypogonadism: Novel Genetic Findings in ANOS1, RNF216, WDR11, FGFR1, CHD7, and POLR3A …

V Neocleous, P Fanis, M Toumba… - Frontiers in …, 2020 - frontiersin.org
Background: Congenital hypogonadotropic hypogonadism (CHH) is a rare genetic disease
caused by Gonadotropin-Releasing Hormone (GnRH) deficiency. So far a limited number of …

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 …

Genetic architecture of self-limited delayed puberty and congenital hypogonadotropic hypogonadism

V Vezzoli, F Hrvat, G Goggi, S Federici… - Frontiers in …, 2023 - frontiersin.org
Distinguishing between self limited delayed puberty (SLDP) and congenital
hypogonadotropic hypogonadism (CHH) may be tricky as they share clinical and …

Diagnosing and treating anterior pituitary hormone deficiency in pediatric patients

RA Rey, I Bergadá, MG Ballerini, D Braslavsky… - Reviews in Endocrine …, 2024 - Springer
Hypopituitarism, or the failure to secrete hormones produced by the anterior pituitary
(adenohypophysis) and/or to release hormones from the posterior pituitary …