Galactocele is a benign breast lesion, usually occurring in nursing women. This lesion is a rare cause of breast enlargement in

children. In this paper we describe the case of an infant with hyperprolactinemia (which persisted throughout 15 years of clinical

observation) and bilateral galactocele.We speculate that a congenital midline defect in our patient might have impaired the normal

dopaminergic inhibitory tone on pituitary lactotroph cells, thus leading to an increased prolactin secretion by the pituitary gland;

this, in turn, might have favored the development of the galactocele

Casti, Tiziana

Delitala, Giuseppe

Fanciulli, Giuseppe

Tomasi, Paolo

UnissResearch

Hindawi Publishing Corporation
International Journal of Pediatric Endocrinology
Volume 2009, Article ID 578610, 2 pages
doi:10.1155/2009/578610
Case Report
Persistent Hyperprolactinemia and Bilateral
Galactocele in a Male Infant
Paolo A. Tomasi,1, 2 Giuseppe Fanciulli,1 Tiziana Casti,3 and Giuseppe Delitala1
1 Dipartimento-Struttura Clinica Medica-Patologia Speciale Medica, Universita` degli Studi di Sassari,
Viale San Pietro 8, 07100 Sassari, Italy
2 European Medicines Agency (EMEA), 7 Westferry Circus, London E14 4HB, UK
3 Pediatric Outpatients Clinic, AUSL 2, 07020 Budduso`, Italy
Correspondence should be addressed to Paolo A. Tomasi, paolo.tomasi@emea.europa.eu
Received 21 November 2008; Accepted 27 January 2009
Recommended by Filiz Mine Cizmecioglu
Galactocele is a benign breast lesion, usually occurring in nursing women. This lesion is a rare cause of breast enlargement in
children. In this paper we describe the case of an infant with hyperprolactinemia (which persisted throughout 15 years of clinical
observation) and bilateral galactocele. We speculate that a congenital midline defect in our patient might have impaired the normal
dopaminergic inhibitory tone on pituitary lactotroph cells, thus leading to an increased prolactin secretion by the pituitary gland;
this, in turn, might have favored the development of the galactocele.
Copyright © 2009 Paolo A. Tomasi et al. This is an open access article distributed under the Creative Commons Attribution
License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly
cited.
Galactocele is a rare breast cyst containing milk-like material,
usually observed in lactating women. This condition is rare
in infants: only a handful of cases have been described [1–3].
Hyperprolactinemia is rare in children of less than 5 years; in
particular, persistent isolated Prolactin (PRL) hypersecretion
has never been described in infants.
Here, we describe a child who, to our knowledge, is the
first infant with persistent isolated hyperprolactinemia and
the concomitant presence of bilateral galactocele.
The child was born after caesarean section, performed at
34 weeks of gestation for both polyhydramnios and a previ-
ous caesarean delivery. Prenatal sonographic measurements
and neonatal values were all around the 90th percentile. Peri-
natal anoxia led to admission to the neonatal intensive care
unit. At physical examination, multiple congenital anomalies
were present facial dysmorphism, low implant of the ears,
hyperthelorism, macroglossia, a cleft soft palate, hypore-
activity, hypotonicity, muscular hypertrophy, membranous
syndactily between the third and fourth left fingers. No skele-
tal abnormalities were present except for a relative hypoplasia
of the facial bones. Electrolytes, thyroid hormones, creatine
kinase, and lactate dehydrogenase values were normal. A
normal 46 XY karyotype was present. A transbregmatic
cerebral sonography and an abdominal sonography did not
show any abnormality. No abnormality was found by an
ophthalmologic consultant. At 6 months a veloplastic repair
was performed for correction of the cleft palate. At 8 months
a large left inguinal hernia was diagnosed, and surgery
was performed soon thereafter. At nine months a complete
sonographic examination revealed no abnormalities in the
brain, abdomen, or heart. At 12 months of age a small, soft,
nontender, nonerythematous mass was observed below the
left nipple. At 18 months the left areolar mass appeared
increased, and a similar, although tender, lesion was apparent
also in the right breast. Sonography showed that both lesions
were of cystic nature. These findings prompted a thorough
endocrinological evaluation of the child. Basal GH value
was 4.68 ng/mL, and IGF-I was within the normal range.
PRL basal values at 0, 30, and 60 minutes after insertion
of a forearm cannula were 94.8, 98.8, and 87.71 ng/mL,
respectively. After intravenous coadministration of TRH
50 µg, GnRH 25 µg, and GHRH 25 µg, TSH response was
normal, PRL levels were more than 200 ng/mL, and GH
levels responded significantly, with a peak of >50 ng/mL.
Gonadotropin release showed a postpubertal pattern, with a
greater increase of LH than FSH, which was inappropriate for
2 International Journal of Pediatric Endocrinology
the age of the boy. Other hormonal levels (including thyroid
hormones, 17-hydroxyprogesterone, testosterone, estradiol,
DHEAS, cortisol, and ACTH) were all within normal limits.
Magnetic resonance imaging (MRI) of the brain, performed
at 24 months, was normal. Scrotal echography and repeated
sonographic examinations of upper abdomen were again
negative. Sonography of the mammary cysts consistently
showed a hypoechoic lesion with smooth margins, of 3.5 cm
and 1 cm diameter in the left and right nipples, respectively.
The left cyst was aspirated at 26 months, yielding approx-
imately 18mL of a whitish, milk-like material. Cytological
analysis showed very rare histiocytes and lymphocytes.
Lactose and casein were also present in the fluid. The left cyst
did not reform initially, and the right one was stable. Bone
age at 2.9 years, measured by the Tanner-Whitehouse TW-
II method, was 3.5 years. Basal GH and IGF-I levels at the
same age were normal. At 5.5 years, PRL levels basal values
remained elevated. They showed an increased after TRH,
from 40.5 to 69.7 ng/mL, and after metoclopramide, from
36.0 to 128.0 ng/mL. A repeat GnRH test again displayed a
postpubertal pattern of gonadotropin response. The left cyst
gradually reformed, and the right one was of larger volume
in a sonography performed at 6.5 years. For this reason,
bilateral surgical excision was performed at 7 years. The cysts
were easily isolated and were removed intact. Histological
examination revealed a double-layered epithelium-covered
cyst, with areas of papillary hyperplasia, containing amor-
phous material; pericystic inflammation was present, with
a marked histyoid component. The postoperative recovery
was uneventful, with no reappearance of the lesions, both
clinically and sonographically. Throughout years 6 to 13, a
tendency toward a lowering (but not a normalization) of
the PRL levels became apparent. However, PRL rose again
with the onset of puberty (at 14 years: 38 ng/mL). Thyroid
and adrenal function tests were always in the normal range.
A second MRI of the pituitary region showed again no
abnormalities. A final MRI scan of the brain, performed
at 16 years of age, was normal. At the last followup visit
(age 16.5), the patient’s height was 176 cm (60◦ percentile),
versus a genetic target of 170 cm (25◦); there was no residual
galactocele. His Tanner stage was defined as G4P4. Testes
were 15mL (right) and 10mL (left). Scrotal ultrasound
showed a mild right hydrocele, with a severe left varicocele,
with microcalcifications.
In our child, three syndromes were evaluated in the
diﬀerential diagnosis, to try to account for the complex
clinical picture. Beckwith-Wiedemann syndrome was ruled
out because of the absence of hypoglycemia, omphalocele
and visceromegaly. Sotos syndrome was considered highly
unlikely because of the lack of classical brain MRI presen-
tation (ventricular dilatation, prominence of the trigone,
prominence of the occipital horns). In addition, since our
patient shared some of the features of the Simpson-Golabi-
Behmel syndrome, we carried out a mutation analysis of the
associated Glypican-3 gene, but no mutations were detected.
This patient attracted our interested for two reasons:
because of the bilateral galactocele, a rare condition by itself,
and because of the persistent isolated hyperprolactinemia
displayed by the child throughout more than 15 years of
followup.
The etiology of hyperprolactinemia in this subject is
unclear. Hyperprolactinemia in children has been described
in association with other conditions such as hypothyroidism
[4] and celiac disease [5], or with the presence of macropro-
lactin [6]. These conditions were excluded in our patient.
Moreover, since plasma PRL levels remained high after
surgical removal of the bilateral cysts, local pressure eﬀects
were probably not the cause of the hyperprolactinemia. The
normal responses of PRL to the TRH and metoclopramide
stimulation tests play upon central (hypothalamus-pituitary)
origin of the hypersecretion. A pituitary adenoma is unlikely,
since repeatedMRI of the brain never showed signs of amass.
The normal IGF-I levels and the lack of a consistent GH
hypersecretion constitutes evidence against a mammosoma-
totroph hyperplasia.
The etiology of galactocele is still unknown. Since this
lesion is mainly noted in lactating women, PRL has been sus-
pected to play a role, although obstruction of a galactophore
is clearly the most important pathogenetic mechanism.
We speculate that a midline defect in our patient might
have impaired the tubero-infundibular dopaminergic tract,
thus leading to a diminished tonic inhibition of PRL secre-
tion by the pituitary gland. This, in turn, might have favored
the development of the galactocele.
References
[1] M. Boyle, K. Lakhoo, and P. Ramani, “Galactocele in a male
infant: case report and review of literature,” Fetal and Pediatric
Pathology, vol. 13, no. 3, pp. 305–308, 1993.
[2] Y. Cesur, H. Caksen, I. Demirtas¸, M. Ko¨sem, A. Uner, and R.
Ozer, “Bilateral galactocele in a male infant: a rare cause of
gynecomastia in childhood,” Journal of Pediatric Endocrinology
& Metabolism, vol. 14, no. 1, pp. 107–109, 2001.
[3] N. Rahman, M. Davenport, and C. Buchanan, “Galactocele
in a male infant with congenital hypopituitarism,” Journal of
Pediatric Endocrinology & Metabolism, vol. 17, no. 10, pp. 1451–
1453, 2004.
[4] M. Kocova, S. Netkov, and F. Sukarova-Angelovska, “Pituitary
pseudotumor with unusual presentation reversed shortly after
the introduction of thyroxine replacement therapy,” Journal of
Pediatric Endocrinology & Metabolism, vol. 14, no. 9, pp. 1665–
1669, 2001.
[5] R. Reifen, D. Buskila, M. Maislos, J. Press, and A. Lerner,
“Serum prolactin in coeliac disease: a marker for disease
activity,” Archives of Disease in Childhood, vol. 77, no. 2, pp.
155–157, 1997.
[6] H. L. Fideleﬀ, G. Ruibal, H. Boquete, A. Pujol, A. Sequera,
and P. Sobrado, “Macroprolactinemia in childhood and adoles-
cence: a cause of asymptomatic hyperprolactinemia,” Hormone
Research, vol. 53, no. 1, pp. 16–19, 2000.
 
 
 
 
 
 
It is with great pleasure that I invite all of you to come to New York for the 8th Joint Meeting, 
September 9-12, 2009. 
  
The meeting will bring together LWPES and ESPE as well as our sister societies APES, APPEG, 
JSPE and SLEP and continues a 25 year old tradition. 
 
Our theme will be "Global Care in Pediatric Endocrinology" and the format of our meeting will be 
truly global.  We expect over 2,000 delegates in the newly refurbished Hilton New York in mid-
town Manhattan.  The hotel has over 1,900 rooms and 150,000 sq. ft. of function space which will 
make for an attractive venue. While the Hilton New York will be the headquarters hotel, the 1,750 
room Sheraton New York Hotel and the 665 room Sheraton Manhattan Hotel are only one 
block away and will also serve as conference hotels.  
  
The meeting will begin with the "Clubs" on Wednesday morning, 9/9, and we will launch the core 
meeting in the afternoon. We will have six plenary sessions, three yearbook sessions as well as 
interactive and pro / con sessions. There will be 19 theme symposia and 26 MTE sessions.  We 
expect 1,500 posters and will schedule 15 platform sessions.  We will have many satellite 
sessions on growth and Diabetes throughout the three days. 
 
We have booked the Museum of Modern Art (MoMA) on 54th Street, around the corner from 
the Hilton New York for our Gala evening on Thursday. 
  
Our website is  www.lwpes-espe2009.org .  
  
Abstract submission deadline is April 10, 2009 and authors will be notified by June 10, 2009. 
  
Congress registration and housing websites will open in mid-February 2009.  
 
I hope to welcome all of you in September in New York. 
  
My email address is PHSaenger@aol.com . 
  
 
 
Commentary: 
 
"Global Care in Pediatric Endocrinology": 
8th Joint Meeting of the Lawson Wilkins Pediatric Endocrine Society / 
European Society for Pediatric Endocrinology 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
Paul Saenger MD MACE 
Professor of Pediatrics 
Albert Einstein College of Medicine  
President,8 th Joint Meeting,LWPES/ESPE.New York City 2009 
Tel 914 636 5924, Fax 914 5764736 
Cell 917 359 9837 
 
 
 
Commentary: 
 
"Global Care in Pediatric Endocrinology": 
8th Joint Meeting of the Lawson Wilkins Pediatric Endocrine Society / 
European Society for Pediatric Endocrinology 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
Paul Saenger MD MACE 
Professor of Pediatrics 
Albert Einstein College of Medicine  
President,8 th Joint Meeting,LWPES/ESPE.New York City 2009 
Tel 914 636 5924, Fax 914 5764736 
Cell 917 359 9837 
 
 


Persistent hyperprolactinemia and bilateral galactocele in a male infant: case report

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