A case of prolactin deficiency with familial puerperal alactogenesis accompanying impaired ACTH secretion.
We report here the case of a 34-year-old female with puerperal alactogenesis. Her menstrual cycle was regular and breast development normal. She had delivered a healthy boy but could not breast-feed after parturition. Endocrinological studies disclosed that the cause was a prolactin (PRL) deficiency. In addition, she showed accompanying impaired ACTH secretion that was believed to be triggered by encephalitis, although her plasma levels of GH, TSH, LH and FSH remained intact. Pituitary MRI showed no specific findings and anti-pituitary antibody tests were negative. Interestingly, both her mother and grandmother also reported puerperal alactogenesis. The sequences of all five exons of the PRL gene, including promoter region and transcription initiation point, were surveyed in order to examine for certain genetic disorders, but no mutations were identified. Although it cannot be definitively concluded that this PRL deficiency was not a genomic DNA disorder, in our case at least, her PRL gene was normal and, therefore, was not directly responsible for the patient's impaired PRL secretion. This evidence suggests that familial puerperal alactogenesis and PRL deficiency can be induced by other causes such as via disorders of unknown transcription factors or molecules that contribute to translation of PRL gene.
Saito
Takatoshi
T
Department of Medicine, Division of Diabetes and Endocrinology, the Jikei University School of Medicine, Tokyo, Japan.
Tojo
Katsuyoshi
K
Oki
Yutaka
Y
Sakamoto
Noriko
N
Matsudaira
Toru
T
Sasaki
Takashi
T
Tajima
Naoko
N
D000324:Adrenocorticotropic Hormone / Q000378:metabolism*; D000328:Adult; D005260:Female; D006801:Humans; D007775:Lactation Disorders / Q000175:diagnosis / Q000209:etiology* / Q000235:genetics; D010900:Pituitary Diseases / Q000150:complications*; D010901:Pituitary Function Tests; D049590:Postpartum Period; D011388:Prolactin / Q000172:deficiency* / Q000235:genetics
D000324:Adrenocorticotropic Hormone; D011388:Prolactin