Isolated prolactin deficiency associated with serum autoantibodies against prolactin-secreting cells.
BACKGROUND
Isolated prolactin (PRL) deficiency is a rare entity of unknown etiology manifesting as failure of puerperal lactogenesis.


OBJECTIVE
The aim of the study was to determine the cause of isolated PRL deficiency in an affected woman.


METHODS
We examined genetic and autoimmune causes of isolated PRL deficiency at academic medical centers.


METHODS
The patient was a 39-year-old woman with puerperal alactogenesis after two deliveries and undetectable PRL. The other pituitary axes, serum calcium levels, and cranial magnetic resonance imaging were normal.


METHODS
Recombinant human PRL (r-hPRL) was administered to the patient.


METHODS
We measured the sequencing of candidate genes and immunofluorescence analysis of autoantibodies directed against pituitary endocrine cells.


RESULTS
There were no rare sequence variants in the genes encoding for PRL, putative PRL-releasing peptide, putative PRL-releasing peptide receptor, or in other genes important for lactotroph lineage development (POU1F1, PROP1, LHX3, LHX4, HESX1, OTX2, and LSD1). The patient serum, on the contrary, contained autoantibodies that specifically recognized a subset of PRL-secreting cells but not PRL itself or any other pituitary cells or hormones. The mother was able to lactate fully after 17 days of treatment with r-hPRL 60 μg/kg every 12 hours, but alactogenesis resumed after treatment was completed.


CONCLUSIONS
These studies report a new autoimmune etiology for women with isolated PRL deficiency and puerperal alactogenesis.
MD, MPH, Johns Hopkins Pathology, Ross 656, 720 Rutland Avenue, Baltimore, Maryland 21205. pcat@jhmi.edu.
Shintaro
S
Iwama
Corrine K
CK
Welt
Christopher J
CJ
Romero
Sally
S
Radovick
Patrizio
P
Caturegli
D000328:Adult; D001323:Autoantibodies / Q000097:blood*; D001327:Autoimmune Diseases / Q000097:blood / Q000276:immunology*; D005260:Female; D006801:Humans; D007018:Hypopituitarism / Q000097:blood / Q000276:immunology*; D052682:Lactotrophs / Q000276:immunology*; D011388:Prolactin / Q000097:blood / Q000172:deficiency*
D001323:Autoantibodies; D011388:Prolactin