A rare sex chromosome aneuploidy: 48, xxyy syndrome (original) (raw)
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Rare sex chromosome aneuploidies: 49, XXXXY and 48, XXXY syndromes
… Turkish Journal of …, 2009
49,XXXXY and 48,XXXY syndromes are rare gonosomal aneuploidies in which the affected individuals present with characteristic facial and skeletal malformations, intrauterine growth retardation, and psychomotor retardation. Psychological, endocrinologic and orthopedic disorders constitute the major problems in the clinical follow-up. Sex chromosome abnormalities should especially be kept in mind in the evaluation of patients with micropenis, mental retardation and accompanying behavioral disturbances. Management mandates a multidisciplinary approach with pediatric endocrinology, pediatric surgery, orthopedics, psychiatry, and clinical genetic evaluations.
A case report of rare sex chromosomal aneuploidy: 48,XXXY/49,XXXXY
The sex chromosome aneuploidy 49,XXXXY is a rare syndrome characterized by mental retardation, severe speech impairment, multiple skeletal defects, genital abnormalities and subtle dysmorphic features. The incidence of 48,XXXY/49,XXXXY is very rare and to our knowledge only few reports of mosaicism have been reported so far but with different cell line proportions. We describe a case with 48,XXXY[16]/49,XXXXY[4] mosaicism in a four year old boy with microcephaly, short stature, expressive speech delay, and clinodactyly. Karyotyping showed mosaicism with 48XXXY[16]/49XXXXY[4] and was confirmed by FISH analysis.
An infant with 49XXXXY syndrome: a case report
Journal of Medical Case Reports, 2021
Background: 49XXXXY syndrome is the rarest X chromosome aneuploidy, with approximate incidence of 1:85,000-100,000 male births. Worldwide, around 100 cases have been reported. In this report, we describe one such case seen in Sri Lanka. Case presentation: A 10-day-old Sri Lankan neonate born in a tertiary care center was referred to the pediatric endocrinology unit of Lady Ridgeway Hospital due to detection of ambiguous genitalia at birth. He was the first child born to nonconsanguineous healthy parents following an uncomplicated antenatal period. He was born at term via normal vaginal delivery, with a birth weight of 2.385 kg. The baby was active, and there was no documented hypoglycemia or alteration in basic biochemical investigations. On examination, the child had hypertelorism, upslanting palpebral fissures, flat occiput, and mild webbing of the neck. System examination was normal. Genitalia examination revealed bifid scrotum, perineal urethra, 2 cm phallus, and bilateral testis in situ. Hormonal analysis, including dehydroepiandrosterone sulfate, testosterone, and 17-OH progesterone levels, was normal except for an elevated level of follicle-stimulating hormone, indicating gonadal dysgenesis. Ultrasound of the abdomen detected testis located at bilateral inguinal canal, and no Müllerian structures were visible. Echocardiography showed a small patent foramen ovale with otherwise normal heart. Chromosome analysis revealed 49XXXXY syndrome. Conclusion: 49XXXXY syndrome should be entertained as a rare possibility for ambiguous genitalia, and karyotyping is an essential investigation for evaluation of such patients.
47,XYY Syndrome: Clinical Phenotype and Timing of Ascertainment
The Journal of Pediatrics, 2013
Objective To describe auxologic, physical, and behavioral features in a large cohort of males with 47,XYY (XYY), ages newborn to young adult. Study design This is a cross-sectional descriptive study of male subjects with XYY who were evaluated at 1 of 2 specialized academic sites. Subjects underwent a history, physical examination, laboratory testing, and cognitive/ behavioral evaluation. Results In 90 males with XYY (mean age 9.6 AE 5.3 years [range 0.5-36.5]), mean height SD was above average (1.0 AE 1.2 SD). Macrocephaly (head circumference >2 SD) was noted in 28/84 (33%), hypotonia in 57/90 (63%), clinodactyly in 47/90 (52%), and hypertelorism in 53/90 (59%). There was testicular enlargement for age (>2 SD) in 41/82 (50%), but no increase in genital anomalies. No physical phenotypic differences were seen in boys diagnosed prenatally vs postnatally. Testosterone, luteinizing hormone, and follicle stimulating hormone levels were in the normal range in most boys. There was an increased incidence of asthma, seizures, tremor, and autistic spectrum disorder (ASD) compared with the general population rates. Prenatally diagnosed boys scored significantly better on cognitive testing and were less likely to be diagnosed with ASD (P < .01). Conclusions The XYY phenotype commonly includes tall stature, macrocephaly, macroorchidism, hypotonia, hypertelorism, and tremor. Physical phenotypic features were similar in boys diagnosed prenatally vs postnatally. Prenatal diagnosis was associated with higher cognitive function and less likelihood of an ASD diagnosis. (J Pediatr 2013;163:1085-94). D espite the fact that 1 in 1000 boys 1-6 have the karyotype 47,XYY (XYY), there is a paucity of information about the phenotype, and approximately 85% or more of males with XYY are never diagnosed. 1,4,7-13 In addition to the lack of large-scale studies, another barrier to understanding the breadth of the phenotype in XYY is ascertainment bias. Historically, studies of adults with XYY ascertained subjects from samples of men who were tall, 9,14 or had psychiatric diagnoses or behavior problems. 5,15 A few studies describe cohorts diagnosed by newborn screening, 1,6,7,10,16,17 which are likely to best reflect the true diversity of the phenotype. However, because these studies are rare and most newborn screening programs do not include analysis of sex chromosome or karyotype, recent studies typically describe boys diagnosed for clinical reasons. Most boys with XYY are diagnosed in the first decade of life because of developmental delays, behavioral issues, 2 and tall stature. 6 Studies describing those diagnosed postnatally are inherently biased toward describing patients with more severe clinical involvement, given the atypical development, behavior or other clinical concerns that led to their diagnosis. 2,4,9 Previously described physical features include birth weight and length in the normal range, with tall stature starting in childhood and exceeding the midparental target height. 1,6,18 There are reports of genitourinary anomalies, including microphallus, hypoplastic scrotum, cryptorchidism, and hypospadias in XYY. 11,19 Aspects of the phenotype including pubertal development, testosterone levels, and testicular function have been topics of debate because males with XYY were first described in the 1960s. 9 An initial report described men institutionalized for antisocial behavior who were found to have an increased frequency of the XYY karyotype, 9 and males in prison with XYY had higher testosterone than controls with healthy age-matched male controls. 9 There are few studies investigating testicular function in XYY during childhood and adolescence. Ratcliffe described 19 boys with XYY as having normal or delayed puberty. 1
46 Xy Disorder; Etiological Classification of the Patient with Sex Development
THE PROFESSIONAL MEDICAL JOURNAL, 2016
The Disorders of Sex Development are classified as 46, XY DSD, 46, XX DSD and Chromosomal DSD according to the chromosomal constitution of the affected persons. 46, XY DSD is further classified into Androgen Synthetic Defect, Androgen Insensitivity Syndrome Gonadal Dysgenesis, 5-Alpha Reductase Deficiency, Persistent Mullerian Duct Syndrome and Isolated Hypospadias according to the pathophysiology of the disease. The aim of present study was to classify 46, XY patients into their subclasses on the basis of their hormonal profile and physical examination. Study Design: Observational descriptive study.
Indian journal of endocrinology and metabolism, 2012
48,XXYY is a rare sex chromosome aneuploidy affecting 1 in 18,000 to 50,000 male births. They present with developmental delay, hypogonadism, gynecomastia, intention tremors, and a spectrum of neurodevelopmental and psychiatric disorders. At one time this condition was considered a variant of Klinefelter syndrome. In clinically suspected cases, 48,XXYY syndrome can be diagnosed by chromosome culture and karyotyping. This patient presented with hypergonadotrophic hypogonadism, attention deficit hyperactive disorder, and renal malformatons. Klinefelter syndrome was clinically suspected. The karyotype confirmed the diagnosis of 48,XXYY syndrome. This is the first reported case of 48,XXYY syndrome from Sri Lanka.
Journal of Medical Case Reports
Background Long-term infertility can be attributed to many factors, with the genetic factor being the most overlooked due to its many nonspecific morphological or endocrine signs. We present a rare case of a patient with progressive testicular failure associated with 48,XXYY syndrome. Case presentation A 39-year-old Arab man presented to our fertility clinic for fertility treatment. He was diagnosed with primary infertility, which had been present for 20 years at the time of presentation. Our patient had nonspecific morphological features of an abnormally wide neck with front slouching neck posture, clinodactyly of the third finger, and had moderate hypoandrogenemic features. A semen analysis revealed azoospermia. Genetic tests for azoospermia, including sex-determining region Y (SRY) detection and chromosome Y microdeletion, revealed no deletion present on the Y chromosome. Karyotyping was used and our patient was diagnosed with 48,XXYY syndrome. Conclusion Genetic testing (karyoty...
American Journal of Medical Genetics, 1993
We report on 2 phenotypic sisters, one with 46,XY; the other with 46,XX. The 2 girls had similar related internal malformations, including agonadism, hypoplasia of the right pulmonary artery, hypoplasia of the right lung, isolated dextrocardia with complex vitium cordis, and diaphragmatic hernia (only sib 1) or omphalocele (only sib 2). This combination of malformations did not fit into any of the previously described syndromes. For this syndrome we suggest the acronym PAGOD ([hypoplasia of the] pulmo, and pulmonary artery, agonadism, omphalocele/diaphragmatic defect, dextrocardia). The occurrence of a basically similar set of malformations in 2 unlike sex is interpreted as evidence for autosomal recessive inheritance. The different gonoso-ma1 status excludes the Y chromosome as a responsible factor. The peculiar finding of a 46,xX sex chromosome constitution combined with agonadism and an intact urogenital tract emphasizes the concept of secondary regression of Wolffian and Miillerian structures. The associated malformations of mesodermal structures can be interpreted as midline defects. We suggest that, from the developmental field perspective, secondary regression of midline structures including the
Infant with mos45,X/46,XY/47,XYY/48,XYYY: Genetic and clinical findings
American Journal of Medical Genetics, 1995
We describe an infant with mos45,X/46,2W 47JLYYI48,XYYY who presented with ambig uous genitalia. Her phenotype was also remarkable for minor ear and eye anomalies and coarctation of the aorta with bicuspid aortic valve. Laparoscopy revealed bilateral Fallopian tubes and a left infantile testis with epididymis. Chromosomal analyses of blood, skin, aorta, right Fallopian tube, and left gonadal tissue showed mos45,X/46,XY/ 47,XYY/48,XYYY. The 46, 2CY cell line was identified with routine trypsin-Giemsa banding only in cultured cells from an aortic biopsy. Fluorescence in-situ hybridization (FISH) was utilized to identify the presence of 46,XY cells in other tissues. The clinical manifestations of this patient are discussed and compared with those of similar cases of Y chromosome aneuploidy. To our knowledge, this is the first report of a patient with this unusual karyotype. 0 1995 Wiley-Liss, Inc.