Sacroiliitis, Klinefelter Syndrome
MAKALE #1669 © Yazan Prof.Dr.Mehmet Emre ATABEK | Yayın Ekim 2008 | 5,276 Okuyucu
CASE REPORT
Bilateral Sacroiliitis Following Isotretinoin Treatment in anAdolescent With Klinefelter Syndrome
Mehmet Emre Atabek, MD, Ozgur Pirgon, MD, and Sefika Elmas, MD
Abstract:
Klinefelter syndrome has been noted to have an association
with several autoimmune and rheumatic diseases, including
systemic lupus erythematosus, rheumatoid arthritis, and ankylosing
spondylitis. We report a 14-year-old boy with Klinefelter syndrome
who developed severe acne fulminans and bilateral sacroiliitis after
testosterone and isotretinoin administration.
Key Words:
Klinefelter syndrome, acne fulminans, sacroiliitis,
isotretinoin
(
The Endocrinologist 2007;17: 244–245)
K
linefelter syndrome is the most common genetic cause of
male infertility, with an incidence of 1 in 600 male
births.
1 Clinical findings are nonspecific during childhood.
The diagnosis is usually made during adolescence or adulthood
in men who present with the classic triad of small testes,
of hypergonadotrophic hypogonadism, and of gynecomastia.
2
Klinefelter syndrome has an association with autoimmune
diseases, leukemia, malignant lymphoma, and other malignant
tumors
3–5 Among the autoimmune diseases, systemic
lupus erythematosus is well known to be associated with this
syndrome.
6,7 We report a 14-year-old boy with Klinefelter
syndrome who developed bilateral sacroiliitis following testosterone
replacement therapy and isotretinoin treatment for
acne fulminans.
Patient Report
The patient was a 14-year-old boy complaining of fever
and low back pain for 2 months. He mentioned that his back
pain was worse at night and improved with exercise. He was
being followed in our endocrinology department for tall
stature and behavioral problems. His karyotype was 47 XXY.
He was given 50 mg testosterone (IM) over 8 months to
promote proper development of male sexual characteristics
and to prevent osteoporosis. He also used isotretinoin for 3
months for his acneiform lesions. His back pain began a
month after isotretinoin therapy and remained asymptomatic,
and the isotretinoin was stopped. He had several papules,
papulopustules, and fluctuant inflammatory nodules on his
face and neck (Fig. 1A). He had prominent hips and bilateral
gynecomastia. The penis was 10 cm long, with both testes
measuring 5 mL, with firm consistency. Serum markers
indicated an acute infection, leukocytes with elevated polymorphonuclear
leukocytes, and thrombocytes. The erythrocyte
sedimentation rate was 74 mm/hour and C-reactive
protein level was 33.7 mg/L. Microscopic examination of the
drainage material of an abscess from his neck was full of
polymorphonuclear leukocytes and erythrocytes. Gram staining
revealed no bacteria. Bacterial cultures from both the
superficial papules and pustules and the abscess drainage
material grew no pathogenic bacteria. Lumbar magnetic resonance
imaging showed no pathologic findings. Pelvic magnetic
resonance imaging of the bilateral sacroiliac joints
showed hypointensity on T1-weighted spin echo, mild hypointensity
on T2-weighted spin echo, and hyperintensity on
both T1- and T2-weighted fast-spin echoes leading to the
diagnosis of sacroiliitis (Fig. 1B). HLA-B27 antigen and
antinuclear antibody titers were negative. On the 10th day in
the hospital, methylprednisolone 48 mg/day and sulfasalazine
1000 mg/day in divided doses were started. Six weeks later,
he had no back pain, and the serum sedimentation rate was
decreased to 23 mm/hour; C-reactive protein was 8 mg/L.
DISCUSSION
Patients with Klinefelter syndrome have a higher risk of
developing rheumatic disease than normal 46 XY men.
8
Although the complex relationship between sex hormones/
sex chromosomes and rheumatic diseases, either direct or
indirect, is not yet fully understood, there appears to be a
strong relationship between sex hormones and the development
of rheumatic disease. In addition, these patients have
been found to have a high frequency of rheumatic disorders
such as ankylosing spondylitis and HLA-B27 antigen, systemic
lupus erythematosus, antiphospholipid syndrome, and
juvenile dermatomyositis.
9 With respect to the pathogenesis
of Klinefelter syndrome and autoimmune diseases, opinions
converge in that a doubled chromosome X and a low androgen-
to-estrogen ratio are typical features in Klinefelter syndrome.
These may play an important role in the pathogenesis
of autoimmune diseases. Low testosterone levels found in
patients with Klinefelter syndrome might be an appropriate
background for a predisposition for the development of autoimmune
diseases
10 It has been speculated that some of
these diseases, which normally show a female predominance,
From the Department of Pediatric Endocrinology and Diabetes, Faculty of
Medicine, Selcuk University, Konya, Turkey.
Reprints: Mehmet Emre Atabek, Selcuk Universitesi Meram Tip Fakultesi,
Cocuk Sagligi ve Hastaliklari, 42080 Konya, Turkey. E-mail:
meatabek@hotmail.com.
Copyright © 2007 by Lippincott Williams & Wilkins
ISSN: 1051-2144/07/1705-0244
DOI: 10.1097/TEN.0b013e3181520419
The Endocrinologist
• Volume 17, Number 244 5, October 2007
are seen concomitance with Klinefelter syndrome due to a
relative excess of estrogen and lack of androgen in these
patients. An association between Klinefelter syndrome and
systemic lupus erythematosus is well described.
6,11 This patient,
suffering from sacroiliitis, had negative serology tests
for syphilis, brucellosis, toxoplasmosis, toxocarosis, antinuclear
antibodies, rheumatoid factor, antineutrophilic cytoplasmic
antibodies, antimyeloperoxidase antibodies and HLAB27
histocompatibility antigen.
Acne is rarely seen in Klinefelter syndrome. Acne
fulminans has been reported to be more common and severe
in XYY chromosomal aberration than in normal subjects.
12
Although factors other than circulating androgen levels appear
to be of importance in the manifestation of acne formation
in patients with Klinefelter syndrome, testosterone, as
given for hormone substitution or for growth retardation may
aggravate preexisting acne.
13 Our patient had a tendency to
develop rheumatic disease with sacroiliitis, which occurred
together with acne fulminans and a short time after isotretinoin
therapy. It is reported that arthritis is observed in one
third of patients with acne fulminans, and sacroiliitis is
reported in 21% of acne fulminans patients with arthritis.
14
Also there are cases of acne fulminans and isotretinoin
associated musculoskeletal syndromes in literature.
15,16 In a
few cases, acne fulminans with sacroiliitis has been reported
during isotretinoin treatment, suggesting the responsibility of
this drug. Our patient formerly had acne, and during testosterone
therapy severe acne fulminans developed.
Patients with Klinefelter syndrome have a higher risk of
developing rheumatic disease. We suggest that children with
Klinefelter syndrome be monitored from the aspect of the
development of rheumatologic diseases, as it might be associated
with hypogonadism.
REFERENCES
1. Brandes BM, Mesrobian HG. Evaluation and management of genital
anomalies in two patients with Klinefelter syndrome and review of
literature.
Urology. 2005;65:976 –979.
2. Wattendorf DJ, Muenke M. Klinefelter syndrome.
Am Fam Physician.
2005;72:2259 –2262.
3. Schattner A, Berrebi A. Klinefelter’s syndrome associated with autoimmune
disease.
J R Soc Med. 1986;40:560.
4. Attard-Montalto SP, Schuller I, Lastowska MA, et al. Non-Hodgkin’s
lymphoma and Klinefelter syndrome.
Pediatr Hematol Oncol. 1994;11:
197–200.
5. Hasle H, Mellemgaard A, Nielsen J, et al. Cancer incidence in men with
Klinefelter syndrome.
Br J Cancer. 1994;71:416–420.
6. Stern R, Fishman J, Brusman H, et al. Systemic lupus erythematosus
associated with Klinefelter’s syndrome.
Arthritis Rheum. 1977;20:
18–22.
7. Dugernier T, Huaux JP, Coche E, et al. Klinefelter’s syndrome and lupus
erythematosus: report of a case.
Clin Rheumatol. 1987;6:84–87.
8. Melillo N, Corrado A, Quarta L, et al. Psoriatic arthritis and Klinefelter
syndrome: case report.
Clin Rheumatol. 2006;11:1–2.
9. Jimenez-Balderas FJ, Tapia-Serrano R, Fonseca ME, et al. High frequency
of association of rheumatic/autoimmune diseases and untreated
male hypogonadism with severe testicular dysfunction.
Arthritis Res.
2001;3:362–367.
10. Rovensky J. Rheumatic diseases and Klinefelter’s syndrome.
Autoimmun
Rev
. 2006;6:33–36.
11. Mirkinson LJ, Ceruti R, Katona IM. Klinefelter’s syndrome and juvenile
chronic arthritis.
Clin Rheumatol. 2006;25:62– 64.
12. Wollenberg A, Wolff H, Jansen T, et al. Acne conglobata and
Klinefelter’s syndrome.
Br J Dermatol. 1997;136:421– 423.
13. Traupe H, von Muhlendahl KE, Bramswig J, et al. Acne of the fulminans
type following testosterone therapy in three excessively tall boys.
Arch
Dermatol
. 1988;124:414–417.
14. Knitzer RH, Needleman BW. Musculoskeletal syndromes associated
with acne.
Semin Arthritis Rheum. 1991;20:247–245.
15. Bachmeyer C, Charoud A, Turc Y, et al. Isotretinoin-induced bilateral
sacroiliitis.
Dermatology. 2003;206:285–286.
16. Elias LM, Gomez MI, Torrelo A, et al. Acne fulminans and bilateral
seronegative sacroiliitis triggered by isotretinoin.
J Dermatol. 1991;18:
366–367.
FIGURE 1.
A, Severe acne formations in the
patient with Klinefelter syndrome. B, Pelvic
magnetic resonance imaging, bilateral sacroiliac
joints showed hyperintensity on T2-
weighted spin echo.
The Endocrinologist
• Volume 17, Number 5, October 2007 Sacroiliitis in Klinefelter Syndrome
© 2007 Lippincott Williams & Wilkins
245
Beğenin 
| Makale Kütüphanemizden | ||||
|
Sitemizde yer alan döküman ve yazılar uzman üyelerimiz tarafından hazırlanmış ve pek çoğu bilimsel düzeyde yapılmış çalışmalar olduğundan güvenilir mahiyette eserlerdir. Bununla birlikte TavsiyeEdiyorum.com sitesi ve çalışma sahipleri, yazıların içerdiği bilgilerin güvenilirliği veya güncelliği konusunda hukuki bir güvence vermezler. Sitemizde yayınlanan yazılar bilgi amaçlı kaleme alınmış ve profesyonellere yönelik olarak
hazırlanmıştır. Site ziyaretçilerimizin o meslekle ilgili bir uzmanla görüşmeden, yazı içindeki bilgileri kendi başlarına kullanmamaları gerekmektedir. Yazıların telif hakkı tamamen yazarlarına aittir, eserler sahiplerinin muvaffakatı olmadan hiçbir suretle çoğaltılamaz, başka bir
yerde kullanılamaz, kopyala yapıştır yöntemiyle başka mecralara aktarılamaz. Sitemizde yer alan herhangi bir yazı başkasına ait telif haklarını ihlal ediyor, intihal içeriyor veya yazarın mensubu bulunduğu mesleğin meslek için etik kurallarına aykırılıklar taşıyorsa, yazının kaldırılabilmesi için site yönetimimize bilgi verilmelidir.
