Combined pituitary hormone deficiency with unique pituitary dysplasia and morning glory syndrome related to a heterozygous <i>PROKR2</i> mutation

Combined pituitary hormone deficiency with unique pituitary dysplasia and morning glory syndrome related to a heterozygous PROKR2 mutation

Recent reports have indicated the role of the prokineticin receptor 2 gene (PROKR2) in the etiology of congenital hypopituitarism, including septo-optic dysplasia and Kallmann syndrome. In the present study, using next-generation targeted sequencing, we identified a novel heterozygous PROKR2 variant (c.742C>T; p.R248W) in a female patient who had combined pituitary hormone deficiency (CPHD), mo...

Growth without growth hormone in combined pituitary hormone deficiency caused by pituitary stalk interruption syndrome

Growth hormone (GH) is an essential element for normal growth. However, reports of normal growth without GH have been made in patients who have undergone brain surgery for craniopharyngioma. Normal growth without GH can be explained by hyperinsulinemia, hyperprolactinemia, elevated leptin levels, and GH variants; however, its exact mechanism has not been elucidated yet. We diagnosed a female pa...

Genetic overlap in Kallmann syndrome, combined pituitary hormone deficiency, and septo-optic dysplasia.

CONTEXT Kallmann syndrome (KS), combined pituitary hormone deficiency (CPHD), and septo-optic dysplasia (SOD) all result from development defects of the anterior midline in the human forebrain. OBJECTIVE The objective of the study was to investigate whether KS, CPHD, and SOD have shared genetic origins. DESIGN AND PARTICIPANTS A total of 103 patients with either CPHD (n = 35) or SOD (n = 68...

A FSH-Secreting Pituitary Macroadenoma Causing A Testosterone Deficiency Syndrome

Case Report: Hyperprolactinemia and growth hormone deficiency associated with Morning Glory Syndrome; with a

Morning Glory Syndrome (MGS) is a rare congenital malformation of the optic nerve that is caused by a failure of the closure of the choroidal embryonic fissure . The syndrome is usually seen in association with midline in utero cranial defects, such as transsphenoidal and basal encephaloceles. Although MGS usually presents as an isolated ocular finding, it can be associated with endocrinologic...