Tall Stature, Insulin Resistance, and Disturbed Behavior in a Girl with the Triple X Syndrome Harboring Three SHOX Genes: Offspring of a Father with Mosaic Klinefelter Syndrome but with Two Maternal X Chromosomes

2004 ◽  
Vol 61 (5) ◽  
pp. 205-210 ◽  
Author(s):  
Christina Kanaka-Gantenbein ◽  
Sophia Kitsiou ◽  
Ariadni Mavrou ◽  
Lela Stamoyannou ◽  
Aggeliki Kolialexi ◽  
...  
Keyword(s):  
Insulin Resistance ◽  
Klinefelter Syndrome ◽  
Tall Stature ◽  
X Chromosomes ◽  
Disturbed Behavior ◽  
Triple X Syndrome

scholarly journals Cognitive, Affective Problems and Renal Cross Ectopy in a Patient with 48,XXYY/47,XYY Syndrome

2015 ◽  
Vol 2015 ◽  
pp. 1-4 ◽  
Author(s):  
Sefa Resim ◽  
Faruk Kucukdurmaz ◽  
Nazım Kankılıc ◽  
Ozlem Altunoren ◽  
Erkan Efe ◽  
...  
Keyword(s):  
Sex Chromosome ◽  
Klinefelter Syndrome ◽  
Semen Analysis ◽  
Genetic Diagnosis ◽  
Psychomotor Retardation ◽  
Tall Stature ◽  
X Chromosomes ◽  
Y Chromosomes ◽  
The Right ◽  
Hormonal Evaluation

Klinefelter syndrome is the most common sex chromosome abnormality (SCA) in infertile patients and 47,XXY genomic configuration constitutes most of the cases. However, additional Xs and/or Y such as 48,XXYY, 48,XXXY, and 47,XYY can occur less frequently than 47,XXY. Those configurations were considered as variants of Klinefelter syndrome. In this report, we present an infertile man with tall stature and decreased testicular volume. Semen analysis and hormonal evaluation supported the diagnosis of nonobstructive azoospermia. Genetic investigation demonstrated an abnormal male karyotype with two X chromosomes and two Y chromosomes consistent with 48,XXYY(17)/47,XYY (13). Additionally, the patient expressed cognitive and affective problems which were documented by psychomotor retardation and borderline intelligence measured by an IQ value between 70 and 80. Systemic evaluation also revealed cross ectopy and malrotation of the right kidney in the patient. The couple was referred to microtesticular sperm extraction (micro-TESE)/intracytoplasmic sperm injection (ICSI) cycles and preimplantation genetic diagnosis (PGD). To the best of our knowledge, this is the first report of combination of XYY and XXYY syndromes associated with cognitive, affective dysfunction and renal malrotation.

Increased Endothelial Dysfunction and Insulin Resistance in Patients with Klinefelter Syndrome

2018 ◽  
Vol 18 (4) ◽  
pp. 401-406 ◽  
Author(s):  
Cem Haymana ◽  
Aydogan Aydogdu ◽  
Ibrahim Demirci ◽  
Mustafa Dinc ◽  
Orhan Demir ◽  
...  
Keyword(s):  
Insulin Resistance ◽  
Endothelial Dysfunction ◽  
Klinefelter Syndrome

scholarly journals MON-254 Sympromic Hypogonadism: Co- Existence of Morsier and Klinefelter Syndromes

2020 ◽  
Vol 4 (Supplement_1) ◽  
Author(s):  
Fabiola romero ◽  
Sady Arzamendia ◽  
Dahiana Ferreira ◽  
Claudia Neves de Souza ◽  
Helen Lopez ◽  
...  
Keyword(s):  
Klinefelter Syndrome ◽  
External Genitalia ◽  
Psychomotor Retardation ◽  
Septum Pellucidum ◽  
Lower Limbs ◽  
Hormone Deficiency ◽  
Tall Stature ◽  
Male Hypogonadism ◽  
Optic Chiasma ◽  
First Case

Abstract INTRODUCTION: Morsier Syndrome is a rare congenital malformation, characterized by hypoplasia / aplasia of the septum pellucidum and hypoplasia / aplasia of the optic nerves, in addition to pituitary and hypothalamic hormonal deficiencies. Klinefelter Syndrome is a sexual chromosomal genetic alteration, a frequent cause of male hypogonadism, The association of Morsier syndrome and Klinefelter is described below. CLINICAL CASE We report he case of a 12 year-old boy with psychomotor retardation and nystagumsho presented at 14 months of age with growth hormone deficiency (low weight and height,) and diabetes insipuidus with hypernatremia of of 159 mEq and low urinary density (less than 1,005). MRI showed an absence of septum pellucidum, thick right frontal cortical dysplasia with asymmetric appearance of the grooves, small optic chiasma, hypoplastic pitutary gland (3 mm height), compatible with Morsier syndrome. The physical examination draws attention to tall stature, and long lower limbs, facies with prominent forehead and hypertelorism, gynecomastia and small external genitalia for age. Hormonal evaluation revealed hypergonadotropic hypogonadism with a 47 XXY karyoteype suggeting Klinefelter syndrome. CONCLUSION: We report the first case of Morsier syndrome, associated to Klinefelter syndrome. Both syndromes may present with hypogonadism. However, the diagnosis of klinefelter syndrome was made based on the phenotypic characteristics of this patient including hyeprgonadotroic hypogonadism and abnormal karyotype analysis.

scholarly journals Towards a Rational and Efficient Diagnostic Approach in Children Referred for Tall Stature and/or Accelerated Growth to the General Paediatrician

2019 ◽  
Vol 91 (5) ◽  
pp. 293-310
Author(s):  
Peter Lauffer ◽  
Gerdine A. Kamp ◽  
Leonie A. Menke ◽  
Jan M. Wit ◽  
Wilma Oostdijk ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Klinefelter Syndrome ◽  
Pubertal Development ◽  
Secondary Growth ◽  
Diagnostic Approach ◽  
Skeletal Maturation ◽  
Growth Disorders ◽  
Tall Stature ◽  
General Paediatrician ◽  
Accelerated Growth

Tall stature and/or accelerated growth (TS/AG) in a child can be the result of a primary or secondary growth disorder, but more frequently no cause can be found (idiopathic TS). The conditions with the most important therapeutic implications are Klinefelter syndrome, Marfan syndrome and secondary growth disorders such as precocious puberty, hyperthyroidism and growth hormone excess. We propose a diagnostic flow chart offering a systematic approach to evaluate children referred for TS/AG to the general paediatrician. Based on the incidence, prevalence and clinical features of medical conditions associated with TS/AG, we identified relevant clues for primary and secondary growth disorders that may be obtained from the medical history, physical evaluation, growth analysis and additional laboratory and genetic testing. In addition to obtaining a diagnosis, a further goal is to predict adult height based on growth pattern, pubertal development and skeletal maturation. We speculate that an improved diagnostic approach in addition to expanding use of genetic testing may increase the diagnostic yield and lower the age at diagnosis of children with a pathologic cause of TS/AG.

Insulin Resistance in Klinefelter Syndrome

1987 ◽  
Vol 2 (4) ◽  
Author(s):  
M.E. Geffner ◽  
S.A. Kaplan ◽  
N. Bersche ◽  
B.M. Lippe ◽  
E.M. Landow ◽  
...  
Keyword(s):  
Insulin Resistance ◽  
Klinefelter Syndrome

In-vivo skeletal muscle mitochondrial function in Klinefelter syndrome

2021 ◽  
pp. jim-2021-001966
Author(s):  
Stephanie Cung ◽  
Laura Pyle ◽  
Kristin Nadeau ◽  
Dana Dabelea ◽  
Melanie Cree-Green ◽  
...  
Keyword(s):  
Insulin Resistance ◽  
Skeletal Muscle ◽  
Mitochondrial Function ◽  
Klinefelter Syndrome ◽  
Resonance Spectroscopy ◽  
Testosterone Deficiency ◽  
Cross Sectional ◽  
Testosterone Treatment ◽  
Treatment Status

Klinefelter syndrome (XXY) occurs in 1 in 600 males, resulting in testosterone deficiency and a high prevalence of insulin resistance. Testosterone deficiency in men is a known cause of insulin resistance, and mitochondrial dysfunction is hypothesized to mediate this relationship. The aim of this cross-sectional study was to evaluate muscle mitochondrial function in XXY compared with male controls. Twenty-seven boys with XXY (age 14.7±1.8 years) were compared with 87 controls (age 16.9±0.9). In-vivo calf muscle mitochondrial function was assessed via phosphorus magnetic resonance spectroscopy (31P-MRS) following 90 s of isometric 70% maximal exercise. Multiple linear regression was used to compare 31P-MRS outcomes (ADP and phosphocreatine (PCr) time constants, rate of oxidative phosphorylation (Oxphos), and Qmax or the maximal mitochondrial function relative to mitochondrial density) between groups after adjusting for age differences. There were no statistically significant differences in the mitochondrial outcomes of ADP, Oxphos, PCr, and Qmax between the groups. There were also no differences in a sensitivity analysis within the XXY group by testosterone treatment status. In this study, in-vivo postexercise skeletal muscle mitochondrial function does not appear to be impaired in adolescents with XXY compared with controls and is not significantly different by testosterone treatment status in XXY.

scholarly journals Severe XIST hypomethylation clearly distinguishes (SRY+) 46,XX-maleness from Klinefelter syndrome

2010 ◽  
Vol 162 (1) ◽  
pp. 169-175 ◽  
Author(s):  
Andreas Poplinski ◽  
Peter Wieacker ◽  
Sabine Kliesch ◽  
Jörg Gromoll
Keyword(s):  
Klinefelter Syndrome ◽  
Phosphoglycerate Kinase ◽  
Peripheral Blood Lymphocytes ◽  
X Inactivation ◽  
Pseudoautosomal Region ◽  
Methylation Analysis ◽  
X Chromosomes ◽  
Xx Males ◽  
Low Degrees ◽  
Design And Methods

Objective46,XX-maleness affects 1 in 20 000 live male newborns resulting in infertility and hypergonadotrophic hypogonadism. Although the phenotypes of XX-males have been well described, the molecular nature of the X chromosomes remains elusive. We assessed the X inactivation status by DNA methylation analysis of four informative loci and compared those to Klinefelter syndrome (KS) and Turner syndrome.Design and methodsPatient cohort consisted of ten sex-determining region of the Y (SRY+) XX-males, two (SRY−) XX-males, ten 47,XXY Klinefelter men, six 45,X Turner females and ten male and female control individuals each. Methylation analysis was carried out by bisulphite sequencing of DNA from peripheral blood lymphocytes analysing X-inactive-specific transcript (XIST), phosphoglycerate kinase 1 (PGK1), ferritin, heavy peptide-like 17 (FTHL17) and short stature homeobox (SHOX).ResultsXIST methylation was 18% in (SRY+) XX-males, and thus they were severely hypomethylated compared to (SRY−) XX-males (48%; P<0.01), Klinefelter men (44%; P<0.01) and female controls (47%; P<0.01). Turner females and male controls displayed a high degree of XIST methylation of 98 and 94% respectively. Methylation of PGK1, undergoing X inactivation, was not significantly reduced in (SRY+) XX-males compared to female controls in spite of severe XIST hypomethylation (51 vs 69%; P>0.05). FTHL17, escaping X inactivation, but undergoing cell-type-specific inactivation was similarly methylated in XX-males (89%), KS patients (87%) and female controls (90%). SHOX, an X inactivation escapee located in the pseudoautosomal region, displays similarly low degrees of methylation for XX-males (7%), KS patients (7%) and female controls (9%).ConclusionsXIST hypomethylation clearly distinguishes (SRY+) XX-males from Klinefelter men. It does not, however, impair appropriate epigenetic regulation of representative X-linked loci.

scholarly journals Idiopathic central precocious puberty in a Klinefelter patient: highlights on gonadotropin levels and pathophysiology

2020 ◽  
Vol 30 (1) ◽  
Author(s):  
Salwan Maqdasy ◽  
Bertrand Barres ◽  
Gaelle Salaun ◽  
Marie Batisse-Lignier ◽  
Celine Pebrel-Richard ◽  
...  
Keyword(s):  
Luteinizing Hormone ◽  
Precocious Puberty ◽  
Klinefelter Syndrome ◽  
Brain Magnetic Resonance Imaging ◽  
Normal Karyotype ◽  
Central Precocious Puberty ◽  
High Serum ◽  
X Chromosomes ◽  
Releasing Hormone ◽  
Idiopathic Central Precocious Puberty

Abstract Background Idiopathic central precocious puberty (ICPP) is supposed to be non-existent in a context of testicular destruction that is typically present in Klinefelter syndrome (KS). Herein, we describe a rare case of ICPP in a Klinefelter patient (47,XXY) with 2 maternal X chromosomes. Moreover, we highlight the differences in gonadotropin levels in comparison to males with ICPP and a normal karyotype. Case presentation An 8 years old boy with a history of cryptorchidism was evaluated for precocious puberty (Tanner staging: P2/G3). Both testes measured 25x35mm. His hormonal profile confirmed a central origin of precocious puberty with high serum testosterone (4.3 ng/ml), luteinizing hormone [LH (3.5 UI/l)] and follicle stimulating hormone [FSH (7.7 UI/l)] levels. Luteinizing hormone-releasing hormone (LHRH) test amplified LH and FSH secretion to 24 and 14 UI/l respectively. Brain magnetic resonance imaging (MRI) was normal. No MKRN3 mutation was detected. He was treated for ICPP for two years. During puberty, he suffered from hypergonadotropic hypogonadism leading to the diagnosis of KS (47,XXY karyotype). Chromosomal analysis by fluorescent multiplex polymerase chain reaction (PCR) using X chromosome microsatellite markers identified 2 maternal X chromosomes. Analysing 8 cases of KS developing ICPP (our reported case and 7 other published cases) revealed that these KS patients with ICPP have higher LH and FSH levels during ICPP episode than in ICPP patients with a normal karyotype (ICPP with KS vs ICPP with a normal karyotype: LH levels 9.4 ± 12 vs 1.1 ± 0.6 UI/l; FSH levels 23.1 ± 38.5 vs 2.7 ± 1.5 UI/l). Furthermore, their response to gonadotropin-releasing hormone (GnRH) stimulation is characterized by excessive LH and FSH secretion (LH levels post-GnRH: 58 ± 48 vs 15.5 ± 0.8 UI/l; FSH levels post-GnRH: 49.1 ± 62.1 vs 5.7 ± 3.9 UI/l). Conclusions ICPP in boys is extremely rare. The pathophysiology of ICPP in KS is unknown. However, maternal X supplementary chromosome and early testicular destruction may play a significant role in the initiation of ICPP, in part explaining the relative “overrepresentation of ICPP in KS. Thus, karyotype analysis could be considered for boys suffering from ICPP, especially if testicular size is smaller or gonadotropins are significantly elevated.

scholarly journals Increased basal and pulsatile secretion of FSH and LH in young men with 47,XXY or 46,XX karyotypes.

2008 ◽  
Vol 158 (6) ◽  
pp. 803-810 ◽  
Author(s):  
Lise Aksglaede ◽  
Rikke Beck Jensen ◽  
Elisabeth Carlsen ◽  
Petra Kok ◽  
Daniel M Keenan ◽  
...  
Keyword(s):  
Hormonal Regulation ◽  
Klinefelter Syndrome ◽  
Reproductive Function ◽  
Approximate Entropy ◽  
Cross Sectional Study ◽  
Reproductive Hormones ◽  
Healthy Controls ◽  
Cross Sectional ◽  
X Chromosomes ◽  
Functional Changes

ObjectiveThe regulation of normal sexual maturation and reproductive function is dependent on a precise hormonal regulation at hypothalamic, pituitary, and gonadal levels. The aim of this study was to investigate the neuroendocrine integrity of the pituitary–gonadal axis in patients with primary testicular failure due to supernumerary X chromosomes.DesignCross-sectional study.MethodsIn this study, 7 untreated patients with primary gonadal insufficiency due to SRY-positive 46,XX (n=4) and 46,XXY karyotypes (n=3) aged 18.8 years and 25 age-matched healthy controls participated. Reproductive hormones, testicular size, and overnight LH and FSH serum profiles and overnight urine LH and FSH excretion were determined.ResultsBasal LH and FSH secretion was elevated 6.3- and 25.4-fold respectively in the patients and the amount of LH and FSH secreted per burst were 2.0- and 6.6-fold elevated. We found significantly more LH but not FSH peaks per 24 h, as estimated by the Weibullλanalysis. There was no difference between approximate entropy ratios or Weibullγanalyses indicating comparable orderliness and regularity of LH and FSH secretion. Overnight urinary LH and FSH excretion was significantly elevated in patients compared with controls and correlated significantly with calculated total overnight LH and FSH secretion respectively, thus validating deconvolution.ConclusionIn this group of patients with severe hypergonadotropic hypogonadism due to a supernumerary X chromosome, higher basal, pulsatile, and total LH and FSH secretion were associated with significantly more LH peaks per 24 h in comparison with healthy controls. Thus, our data indicate that in patients with Klinefelter syndrome and XX male karyotypes the entire hypothalamic–pituitary–gonadal axis has undergone functional changes.

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