Gitelman syndrome combined with growth hormone deficiency

Gitelman syndrome combined with complete growth hormone deficiency

Gitelman syndrome is a rare autosomal recessive hereditary salt-losing tubulopathy, that manifests as hypokalemic metabolic alkalosis, hypomagnesemia, and hypocalciuria. It is caused by mutations in the solute carrier family 12(sodium/chloride transporters), member 3 (SLC12A3) gene encoding the thiazide-sensitive sodium chloride cotransporter channel (NCCT) in the distal convoluted tubule of th...

Poland's syndrome associated with growth hormone deficiency.

A 9 year old boy with Poland's syndrome (absence of the left pectoralis major muscle associated with an ipsilateral malformation of the hand) and isolated growth hormone deficiency, owing to anatomical abnormalities of the pituitary gland, is described. MRI brain scan showed severe hypoplasia of both the sella and anterior lobe of the pituitary gland with absence of the pituitary stalk and ecto...

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...

Successful Combined Treatment for Atrophic Thyroiditis With Growth Hormone Deficiency

Prader-Willi Syndrome and Growth Hormone Deficiency

Prader-Willi syndrome (PWS) is a rare multisystem genetic disorder demonstrating great variability with changing clinical features during patient's life. It is characterized by severe hypotonia with poor sucking and feeding difficulties in early infancy, followed by excessive eating and gradual development of morbid obesity in later infancy or early childhood. The phenotype is most probably due...