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A Case of XYY Syndrome with Short Stature

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Satoshi Matsuo
Satoshi Matsuo
Satoshi Matsuo
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Endocrine Journal 1996, 43 (Suppl), S 137-S 139
A Case of XYY Syndrome with Short Stature
SATOSHI MATSUO*,**, YOKO TOKUNAGA*,**, ZENRO KIZAKI**, FuMlo INOUE**,
AKIHIKO KINUGASA* *, TADASHI SAWADA* *, TSUTOMU OGATA* * *,
AND YuKIHIRO HASEGAWA * * * *
* Department of Pediatrics , Kyoto Second Red Cross Hospital, Kyoto 602,
** Department of Pediatrics , Kyoto Prefectural University of Medicine, Kyoto 602,
*** Department of Pediatrics , Keio University School of Medicine, Tokyo 160, and
**** Division of Endocrinology and Metabolism , Tokyo Metropolitan Kiyose Children's Hospital, Tokyo 204, Japan
APPROXIMATELY 1 in 1000 newborn males dis-
plays an XYY chromosome pattern [1]. The 47,
XYY male has few phenotypic manifestations. XYY
males tend to be tall and are often inflicted with
severe nodulocystic acne [1]. Clear-cut endocrine
abnormalities have yet to be established. It is not
certain why XYY individuals are more apt to be
found in mental or penal institutions although it is
possible that an abnormality of neural develop-
ment due to the XYY genotype favors deviant
behavior in some. The nature and extent of such
an association are yet to be determined. Our pa-
tient, diagnosed as having XYY syndrome, was
characterized by short stature. We examined the
endocrinological status and genetic defects of his
Y chromosome.
vealed that the subject had XYY syndrome (Fig. 1).
He was then prescribed a central nervous stimu-
lant (methylphenidate) for 1 year, followed by a
major tranquilizer (haloperidol) for the next 3
months. He was referred to our hospital for ex-
amination of his characteristic short stature.
His height was 113.6 cm (-2.6 SD) and his bone
age was 6.4 years (B.A./C.A.=0.78). He had no
pubic hair and his testes were 2.5 ml, which is
normal for his age. He displayed neither minor
anomalies nor nodulocystic acne.
Routine hematological and biochemical readings
Case Report
This 8 3/12-year-old boy is the first of 2 chil-
dren; his younger brother is healthy. He was born
at 42 weeks gestation to a 25-year-old mother (153
cm) and a 34-year-old father (162 cm) after an un-
eventful pregnancy and delivery, with normal
Apgar scores. He weighed 3020 grams.
His academic performance in school was poor
and he was diagnosed as suffering from attention
deficit hyperactivity disorder at the Kyoto City
Child Welfare Center. Chromosome analysis re-
Correspondence to: Dr. Satoshi MATSUO, Department of
Pediatrics, Kyoto Second Red Cross Hospital,
Kamanzadori-Marutamachi Kamigyo-ku, Kyoto 602,
Japan.
Key words: XYY syndrome, Body height, Y chromosome
S138 MATSUO et al.
were all within normal limits (Table 1). His plas-
ma insulin-like growth factor I (IGF-I) had
decreased slightly (83.4 , tg/L) and the maximal GH
responses to insulin, arginine, levodopa and GH
releasing factor (GRF) were 13.4, 21.4, 32.4, and
11.1,ug/L, respectively (Fig. 2). For further exam-
ination of the GH-IGF axis, we measured IGFBP-3,
total IGF-I, free IGF-I and IGFBP-3 protease (Table
1). Because these data were all within the normal
range, we concluded that his GH-IGF axis was nor-
mal.
Analysis of his Y-specific growth gene revealed
no deletion. Other endocrinological examinations
revealed no abnormal findings (Table 1). On load-
ing with LHRH and TRH, LH, FSH, TSH indicated
normal responses. Brain magnetic resonance im-
aging revealed abnormal findings in neither the
hypothalmus nor pituitary gland.
Discussion
The XYY male is usually tall [1], but our patient
was of short stature (-2.6 SD), and was devoid of
any abnormalities in biochemical and endocrino-
logical findings. His GH secretion test, IGF-I,
IGFBP-3 and IGFBP-3 protease were all within the
normal range [2], indicating that the GH-IGF-I axis
was normal. Since his parents are not short, famil-
ial short stature was discounted. On the other
hand, the presence of a Y-specific growth gene has
been postulated [3]. According to this theory, tall
stature is induced when the number of Y-specific
growth gene increases. It therefore appeared that
he may have an abnormal Y chromosome, where
the Y-specific growth gene is abnormal, but no de-
letion on the Y-specific growth gene region was
observed.
Individuals with Kleinfelter's syndrome are usu-
ally tall with long extremities, but there have been
some conflicting reports describing such patients
with short stature [4, 5]. Chromosomal dispro-
portion may play a role in the characterization of
his short stature [6]. The short stature encoun-
tered in our study might be induced by a disorder
in either the post IGF-I receptor mechanisms or
Fig. 2. GH stimulation test, illustrating maximal GH
responses to insulin, arginine, levodopa and GH
releasing factor (GRF) in a XYY male with short
stature.
Table 1. Routine hematological and biochemical
readings of an XYY male with short
stature
XYY SYNDROME WITH SHORT STATURE S139
manifestation of the Y-specific growth gene. There
is a possibility that he had a constitutional short
stature. Otherwise, another unknown factor that
regulates growth may be irregular in this case.
References
1. Grumbach MM, Conte FA (1992) Disorder of sex
differentiation. In: Wilson JD, Foster DW (eds) Wil-
liams Textbook of Endocrinology. WB Saunders,
Philadelphia: 905.
2. Hasegawa Y, Hasegawa T, Koni H, Aso T, Tanaka
N, Kotoh S, Yamada M, Tsuchiya Y (1995) Pro-
teolytic activity of IGFBP-3 in various clinical
conditions during childhood studied by means of
Western immunoblotting. Endocr J 42: 569-576.
3. Ogata T, Tomita K, Hida A, Matsuo N, Nakahori Y,
Nakagome Y (1995) Chromosomal localization of a
Y specific growth gene(s). J Med Genet 32: 572-575.
4. Grand RJ, Rosen SW, Di SP, Kirkham WR (1966)
Unusual case of XXY Klinefelter's syndrome with
pancreatic insufficiency, hypothyroidism, deafness,
chronic lung disease, dwarfism and microcephaly.
Am J Med 41: 478-485.
5. Sato H, Miyamoto S, Ishikiriyama S, Sasaki N, Niimi
H (1995) Klinefelter's syndrome with growth hor-
mone deficiency. Clin Pediatr Endocrinol 4 (Suppl
6):127-129.
6. Ogata T, Matsuo N (1995) Turner syndrome and
female sex chromosome aberrations: Deduction of
the principal factors involved in the development
of clinical features. Hum Genet 95: 607-629.
ResearchGate has not been able to resolve any citations for this publication.
Proteolytic Activity of IGFBP-3 in Various Clinical Conditions During Childhood Studied by Means of Western Immunoblotting
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  • Jan 1995
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Unusual case of XXY Klinefelter's syndrome with pancreatic insufficiency, hypothyroidism, deafness, chronic lung disease, dwarfism and microcephaly
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Chromosomal localization of a Y specific growth gene
Article
  • Aug 1995
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Turner syndrome and female sex chromosome aberrations: Deduction of the principal factors involved in the development of clinical features
Article
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Although clinical features in Turner syndrome have been well defined, underlying genetic factors have not been clarified. To deduce the factors leading to the development of clinical features, we took the following four steps: (1) assessment of clinical features in classic 45,X Turner syndrome; (2) review of clinical features in various female sex chromosome aberrations (karyotype-phenotype correlations); (3) assessment of factors that could lead to Turner features; and (4) correlation of the clinical features with the effects of specific factors. The results indicate that the clinical features in 45,X and in other female sex chromosome aberrations may primarily be determined by: (1) degree of global non-specific developmental defects caused by quantitative alteration of a euchromatic or non-inactivated region; (2) dosage effect of a pseudoautosomal growth gene(s), a Y-specific growth gene(s), and an Xp-Yp homologous lymphogenic gene(s); and (3) degree of chromosome pairing failure in meiocytes that are destined to develop as oocytes in the absence of SRY. 1991; Grumbach and Conte 1992). However, the pertinent factors have not been determined to date. The method to clarify the factors responsible for the development of the Turner phenotype can be broken down into the following steps: (1) assessment of clinical features in classic 45,X Turner syndrome; (2) review of clinical features in various female sex chromosome aberrations (karyotype-phenotype correlations); (3) assessment of factors that could lead to Turner features; and (4) correlation of the clinical features with the effects of specific factors. If the clinical features in 45,X and in other female sex chromosome aberrations are explained by the effects of specific factors, it can be said that such factors contribute to the development of Turner features. In this paper, we take each of the above steps, and propose the principal factors involved in the development of clinical features in Turner syndrome.
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