Genetic regulation of pituitary gland development in human and mouse

D Kelberman, K Rizzoti, R Lovell-Badge… - Endocrine …, 2009 - academic.oup.com
Normal hypothalamopituitary development is closely related to that of the forebrain and is
dependent upon a complex genetic cascade of transcription factors and signaling molecules …

Genetics of combined pituitary hormone deficiency: roadmap into the genome era

Q Fang, AS George, ML Brinkmeier… - Endocrine …, 2016 - academic.oup.com
The genetic basis for combined pituitary hormone deficiency (CPHD) is complex, involving
30 genes in a variety of syndromic and nonsyndromic presentations. Molecular diagnosis of …

Delayed puberty—phenotypic diversity, molecular genetic mechanisms, and recent discoveries

SR Howard, L Dunkel - Endocrine reviews, 2019 - academic.oup.com
This review presents a comprehensive discussion of the clinical condition of delayed
puberty, a common presentation to the pediatric endocrinologist, which may present both …

Mutations in LHX3 result in a new syndrome revealed by combined pituitary hormone deficiency

I Netchine, ML Sobrier, H Krude, D Schnabel… - Nature …, 2000 - nature.com
Combined pituitary hormone deficiency (CPHD) has been linked with rare abnormalities in
genes encoding transcription factors necessary for pituitary development 1. We have …

Heterozygous HESX1 mutations associated with isolated congenital pituitary hypoplasia and septo-optic dysplasia

PQ Thomas, MT Dattani, JM Brickman… - Human molecular …, 2001 - academic.oup.com
We have previously shown that familial septo-optic dysplasia (SOD), a syndromic form of
congenital hypopituitarism involving optic nerve hypoplasia and agenesis of midline brain …

POU domain factors in the neuroendocrine system: lessons from developmental biology provide insights into human disease

B Andersen, MG Rosenfeld - Endocrine reviews, 2001 - academic.oup.com
POU domain factors are transcriptional regulators characterized by a highly conserved DNA-
binding domain referred to as the POU domain. The structure of the POU domain has been …

Genetic forms of hypopituitarism and their manifestation in the neonatal period

KS Alatzoglou, MT Dattani - Early human development, 2009 - Elsevier
The anterior pituitary gland is a central regulator of growth, reproduction and homeostasis.
The development of the pituitary gland depends on the sequential temporal and spatial …

Diagnosis of growth hormone deficiency in childhood

T Stanley - Current Opinion in Endocrinology, Diabetes and …, 2012 - journals.lww.com
Diagnosis of growth hormone deficiency in childhood : Current Opinion in Endocrinology,
Diabetes and Obesity Diagnosis of growth hormone deficiency in childhood : Current Opinion in …

Management of endocrine disease: diagnosis and management of primary amenorrhea and female delayed puberty

S Seppä, T Kuiri-Hänninen… - European Journal of …, 2021 - academic.oup.com
Puberty is the period of transition from childhood to adulthood characterized by the
attainment of adult height and body composition, accrual of bone strength and the …

Molecular basis of combined pituitary hormone deficiencies

LE Cohen, S Radovick - Endocrine Reviews, 2002 - academic.oup.com
Pituitary gland commitment from oral ectoderm occurs in response to inductive signals from
the neuroepithelium of the ventral diencephalon. Invagination of the oral ectoderm leads to …