Panhypopituitarism Overview
Learn About Panhypopituitarism
Combined pituitary hormone deficiency is a condition that causes a partial or complete loss (deficiency) of two or more hormones that are normally produced by the pituitary gland. The pituitary gland, which is located at the base of the brain, produces hormones that are needed for growth, development, and other critical body functions. A lack of pituitary hormones can affect growth and development.
Variants (also called mutations) in several genes that play important roles in early development have been associated with congenital combined pituitary hormone deficiency. PROP1 gene variants are the most common genetic cause of congenital combined pituitary hormone deficiency and are more common in individuals with ancestors from Eastern Europe or the Iberian Peninsula. Variants in other genes have been identified in a smaller number of affected individuals.
The congenital form of combined pituitary hormone deficiency occurs in approximately 1 in 16,000 individuals.
Congenital combined pituitary hormone deficiency can be inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. Some cases of this condition are caused by new (de novo) variants in the gene that occur during the formation of reproductive cells (eggs or sperm) in an affected individual's parent or during early embryonic development. These affected individuals typically have no history of the disorder in their family.
Berenice Mendonca practices in Sao Paulo, Brazil. Ms. Mendonca is rated as an Elite expert by MediFind in the treatment of Panhypopituitarism. Her top areas of expertise are Familial Hypopituitarism, Intersex, Precocious Puberty, Hormone Replacement Therapy (HRT), and Oophorectomy.
Masaki Takagi practices in Tokyo, Japan. Mr. Takagi is rated as an Elite expert by MediFind in the treatment of Panhypopituitarism. His top areas of expertise are Panhypopituitarism, Spondyloepiphyseal Dysplasia, Hypopituitarism, Familial Hypopituitarism, and Hormone Replacement Therapy (HRT).
CHU Angers
Rachel Reynaud practices in Angers, France. Ms. Reynaud is rated as an Elite expert by MediFind in the treatment of Panhypopituitarism. Her top areas of expertise are Panhypopituitarism, Familial Hypopituitarism, Hypopituitarism, Sheehan Syndrome, and Hormone Replacement Therapy (HRT).
Summary: There is a variety of tumors affecting the pituitary gland in childhood; some of these tumors (eg craniopharyngioma) are included among the most common central nervous system tumors in childhood. The gene(s) involved in the pathogenesis of these tumors are largely not known; their possible association with other developmental defects or inheritance pattern(s) has not been investigated. The present...
Summary: This is a sub-study of Study RM-493-040 (NCT05774756). The goal of this sub-study is to learn how well Setmelanotide works to improve weight reduction, hunger, and quality of life in patients 4 years of age and older with congenital Hypothalamic Obesity (cHO). To determine how well setmelanotide works and how safe it is, patients with cHO will take a daily injection of either setmelanotide or plac...
Published Date: May 07, 2025
Published By: National Institutes of Health