An adolescent with 48,XXYY syndrome with hypergonadotrophic hypogonadism, attention deficit hyperactive disorder and renal malformations (original) (raw)
Related papers
A rare sex chromosome aneuploidy: 48, xxyy syndrome
Türk Pediatri Arşivi, 2015
48,XXYY syndrome is a rare sex chromosome abnormality. Although some physical features are similar to Klinefelter syndrome(47,XXY), 48,XXYY is typically associated with different neuropsyhciatric symptoms and phenotypic findings. Approximately 100 cases with 48,XXYY have been reported to date. In this report, a patient who was diagnosed with 48,XXYY syndrome with clincal evaluation and cytogenetic analysis is presented. A 6-year old male patient was hospitalized due to recurrent respiratory tract infections, recurrent abdominal distention and dyspepsia. He was the first and only child of nonconsanguineous parents. He had a history of mild developmental retardation. In his history, it was learned that he received treatment for gastroesophageal reflux and his symptoms improved with treatment. On physical examination, his weight was found to be 31 kg (>97 centile) and his height was found to be 123 cm (90 centile). He had upslanted palpebral fissures, depressed nasal bridge, long philtrum, incomplete cleft lip and micrognathia. Clinodactilia was found in the fifth fingers in both hands and large big toes and adduction in the second and third toes were found in both feet. Karyotype analysis showed a chromosomal composition of 48,XXYY. The patient presented here is the second Turkish case of 48,XXYY syndrome.
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
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.
Clinical and behavioural profile of a rare variant of Klinefelter syndrome-48, XXXY
Indian journal of pediatrics, 2010
Klinefelter's syndrome is a sex chromosomal aneuploidy caused by an addition of X chromosome in males (47,XXY).Variants of this syndrome with X and Y polygamy are of rare occurrence. Here we describe a rare case of 48, XXXY Klinefelter's variant from South India with a reported incidence of 1 per 17,000 to 1 per 50,000 male births. The presence of an extra X chromosome/s in these individuals has a great impact on the physical and cognitive functions, which could be attributed to gene dosage effects and genes involved in neurogenic development.
Journal of Reproduction & Infertility, 2020
Background: Klinefelter syndrome (KS) mosaicism 46,XX/47,XXY is an extremely rare disorder of sex development characterized by the presence of both ovarian and testicular tissues in the same individual. Both elements can be present in the same gonad (ovotestis) or separately in the same individual or as a unilateral ovotestis and the other side with testis or ovary. A mosaic with 46,XY would present with problems related to male infertility and in general, testicular insufficiency, but with a 46,XX mosaic, it is a completely rare presentation. As adolescents, these boys may experience severe emotional and behavioral issues; it is up to the parents to identify these conditions early and get them physician evaluated for possible abnormalities so that they can get the benefit of treatment. Case Presentation: A case of a rare disorder of sexual differentiation with a mosaic 46,XX/47,XXY in a KS individual is reported for whom karyotyping and SRY-FISH work-up was done. Conclusion: Early ...
Genes
Klinefelter syndrome is the most commonly reported sex chromosome abnormality. It is heavily underdiagnosed due to the substantial variability of clinical presentations but is generally characterized by small, firm testes, hypergonadotropic hypogonadism, and the absence of spermatogenesis. Most patients with Klinefelter syndrome have a 47,XXY genotype. If they present with mosaicism, two different cell lines are usually identified, an aneuploid 47,XXY cell line and a normal male 46,XY cell line. There are very few cases of 47,XXY mosaicism with the additional female cell line 46,XX described in the literature. We report a case of an adolescent with the male phenotype and a rare variant mosaic 47,XXY/46,XX karyotype who presented with painless bilateral gynaecomastia. 47,XXY and 46,XX mosaic cell lines were identified with GTG-banding and further characterized using fluorescent in situ hybridization. We summarized the available clinical presentations of reported male patients with 47...
A Case of 49,XXXXY Syndrome in Endocrine Practice
Acta Endocrinologica (Bucharest), 2008
49, XXXXY karyotype syndrome has an incidence of between 1/85 000 and 1/100 000 live births. Typical clinical features include hypogonadism, mental retardation with severe learning difficulties, craniofacial and skeletal abnormalities, but also congenital heart disease. We report on a 4 year-old boy diagnosed with severe generalized hypotonia during his first year of life. Behavioural and cognitive profiles of the case are presented. MRI shows apart from global volume loss and atrophy, scattered punctate foci of T2 signal hyperintensity in the white matter. Endocrine investigations revealed impaired GH concentration during clonidine test, low IGF-1 concentration and cryptorchidism. Long term follow-up of patients with polysomy X by a team of specialists in pediatric neurology, endocrinology and cardiology is mandatory.
Journal of Clinical Case Reports, 2015
Genital tract differentiation and development is a complex process beginning early in embryonic life. Mutation or translocation of the sex-determining region of the Y chromosome (SRY) may lead female genotype to become a male. The absence or genetic mutation of the SRY leads to a male phenotype individual but a female genotype individual (46xx), which is labeled as a Disorder of Sex Development (DSD). We are presenting an 18-year-old male who presented to the endocrine clinic with delayed puberty. There was no apparent predisposing factor upon review of his natal, childhood, and recent history. He had a no secondary sexual characteristics; stretched penile size was 5 cm, and the volume of both testes was around 4 ml. Biochemical assessment showed Hypergonadotrophic hypogonadism, while the peripheral blood Karyotyping showed SRY-positive 46XX/47XX DSD. This is the first reported case with SRY 46XX/47XX, although the somatic changes were not different from the rest of the genetic mutation. The spectrum of the DSD presentation is increasing in the population with time, which necessitates meticulous assessment in early infancy, and genetic screening whenever we suspect this condition. The threshold of suspicion of such diseases should be lower.
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.