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.

Hypogonadism: Is It Always Hypogonadotropic in an Adolescent With a Cleft Palate? A Surprising Case of Klinefelter Syndrome

2020 ◽  
pp. 105566562096760
Author(s):  
Bahar Özcabı ◽  
Meriç Vatansever ◽  
Ayla Güven
Keyword(s):  
Mental Retardation ◽  
Cleft Palate ◽  
Klinefelter Syndrome ◽  
Wide Spectrum ◽  
Hormone Deficiency ◽  
Pituitary Hormone ◽  
First Case ◽  
Midline Defects ◽  
Adrenal Deficiency ◽  
Testicular Size

Pituitary hormone deficiencies may occur in children with midline defects; in these cases, hypogonadism is usually hypogonadotropic. Herein, we report a boy at the age of 13.8 years with mild mental retardation, previously operated for complete cleft palate (isolated) and presented with hypoglycemia due to isolated secondary adrenal insufficiency, who further had a decrease in testicular size with increased follicle-stimulating hormone level (hypergonadotropic hypogonadism) and diagnosed with Klinefelter syndrome. Klinefelter syndrome in childhood is rarely diagnosed and cases are observed in a wide spectrum. Although some regional duplications of the X chromosome also show midline defects such as spina bifida-neural tube defects, mental retardation, hypopituitarism (mostly growth hormone deficiency); coexistence of Klinefelter syndrome and isolated secondary adrenal deficiency/midline defect in our case may also be coincidental. However, to our knowledge, this is the first case in literature with this association in a patient with a 47, XXY karyotype.

scholarly journals P28 Marfan syndrome? Think again!

Rheumatology ◽  
2020 ◽  
Vol 59 (Supplement_2) ◽  
Author(s):  
Anastasia- Vasiliki Madenidou ◽  
Varvara Choida ◽  
Venkat Reddy ◽  
Hanadi Kazkaz
Keyword(s):  
Marfan Syndrome ◽  
Klinefelter Syndrome ◽  
Learning Difficulties ◽  
Tall Stature ◽  
Male Hypogonadism ◽  
Mineral Density ◽  
Body Habitus ◽  
Flat Feet ◽  
Patient Reported ◽  
History Of

Abstract Background A 21 year old male was referred to the adult hypermobility clinic from the local rheumatologist with a suspected diagnosis of Marfan syndrome, based on his body habitus although he had presented to his GP with painful toes. Methods He had a background of autism,learning difficulties and was wearing glasses due to amblyopia. He had a history of dental crowding with two previous teeth extractions. There was no family history of note. On examination, his arm span was not greater than his height, there was no arachnodactyly, his palate was normal, but he had gum hypertrophy. His skin texture was normal, with no abnormal scarring or bruising, but there was presence of striae. His Beighton score was 4/9 and he had flat feet. There was reduced muscle mass and hypotonia, which was felt to be the cause of his hypermobility, rather than increased ligamentous laxity. There was evidence of gynaecomastia and lack of facial hair. The working diagnosis was Klinefelter syndrome due to his tall stature, gynaecomastia and absence of secondary male characteristics. Subsequently, the patient was referred to endocrinology and for genetic testing. Results The endocrinology team recognised the clinical features of male hypogonadism with small phallus (Tanner stage 2/3) and small testes, confirmed also by ultrasound. The patient reported absence of early morning erections. Blood tests confirmed hypergonadotropic hypogonadism (high luteinizing hormone, low testosterone) and the patient was commenced on testosterone therapy. His bone mineral density values lied within the expected range for age. Karyotype analysis confirmed the presence of 48,XXYY which is a chromosomal condition characterized by the presence of an extra X and Y chromosome in males. In terms of management, he attended our Outpatient Hypermobility Exercise Programme and was given advice on footwear. He was provided with extensive written information about this condition by the Rare Chromosome Disorder Support Group, Unique. Conclusion Our case report illustrates the importance of considering 48,XXYY syndrome in patients with typical body habitus and joint hypermobility. Marfanoid habitus is associated with connective tissue diseases, like hypermobile Ehlers-Danlos syndrome and Marfan syndrome, but also described in homocystinuria and Klinefelter syndrome. 48,XXYY was considered previously as a variant of Klinefelter syndrome, but now it is regarded as a separate syndrome with overlapping features with the Klinefelter syndrome. As in our case, the classical phenotypic characteristicsinclude gynaecomastia, small testes and tall stature. Most affected individuals are infertile. This syndrome is also associated with behavioural problems, learning difficulties, congenital heart defects, bone abnormalities, tremor, obesity, type 2 diabetes and/orrespiratory problems. Patients have an essentially normal life expectancy but require regular medical follow-up. Disclosures A. Madenidou None. V. Choida None. V. Reddy None. H. Kazkaz None.

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.

Sirenomelia With Anhydramnios: A Clue From the Movements of Fetal Limbs

2021 ◽  
Vol 37 (2) ◽  
pp. 207-212
Author(s):  
Rahul Dev Chauhan ◽  
Ipsita Sahoo ◽  
Yashvir Mathur
Keyword(s):  
Umbilical Artery ◽  
External Genitalia ◽  
Lower Limbs ◽  
Lumbosacral Spine ◽  
Rare Entity ◽  
Single Umbilical Artery ◽  
Normal Morphology ◽  
Anal Orifice ◽  
First Case ◽  
Antenatal Detection

Sirenomelia is a rare, lethal congenital malformation of the fetus, typically characterized by the fusion of lower limbs and additional malformations involving the lumbosacral spine and urogenital and gastrointestinal tracts. We report a case of sirenomelia with anhydramnios detected during anomaly scan where the fetus had normal morphology of long bones of the lower limbs. There were associated abnormalities of the lumbosacral spine (caudal dysgenesis). The abortus had fused lower limbs, absent external genitalia and anal orifice, single umbilical artery, and Potter facies. We also highlight the interesting diagnostic challenges faced by us during this antenatal ultrasound. To our knowledge, this is the first case report of sirenomelia where the synchronous movement of lower limbs was a clue that led to the timely antenatal detection of this rare entity. This ultimately helped in perinatal counseling of parents to decide on termination of pregnancy.

scholarly journals Síndrome de Klinefelter con deficiencia parcial de hormona de crecimiento.

2015 ◽  
Vol 10 (1) ◽  
pp. 38
Author(s):  
Carlos TORI TORI ◽  
Carlos ROE B.
Keyword(s):  
Growth Hormone ◽  
Growth Hormone Deficiency ◽  
Short Stature ◽  
Klinefelter Syndrome ◽  
Bone Age ◽  
Hormone Deficiency ◽  
Klinefelter’S Syndrome ◽  
Klinefelter's Syndrome ◽  
The Third ◽  
Rare Association

We present a case of Klinefelter’s syndrome and short stature due to partial growth hormone deficiency. His height was below the third percentile for age and his bone age lagged behind four years. Cases like this are generally due to the presence of a an isochromosome Xq or to an isolated partial or total deficiency of growth hormone, or to partial or panhypopituitarism. We wish de emphasize the rare association between Klinefelter syndrome and growth hormone deficiency.

scholarly journals Effect of Testosterone on Bone Metabolism in Male Hypogonadism Associated with Growth Hormone Deficiency

1996 ◽  
Vol 5 (Supple7) ◽  
pp. 36-38
Author(s):  
Osamu Arisaka ◽  
Atsuto Hosaka ◽  
Yuko Nakayama ◽  
Sachi Fujiwara ◽  
Keijiro Yabuta
Keyword(s):  
Growth Hormone ◽  
Growth Hormone Deficiency ◽  
Bone Metabolism ◽  
Hormone Deficiency ◽  
Male Hypogonadism

scholarly journals Klinefelter syndrome in children and adolescents

2018 ◽  
Vol 64 (5) ◽  
pp. 321-328
Author(s):  
Darya A. Bespalyuk ◽  
Igor S. Chugunov
Keyword(s):  
Klinefelter Syndrome ◽  
Onset Time ◽  
Speech Disorders ◽  
Current Data ◽  
Testosterone Replacement Therapy ◽  
Male Hypogonadism ◽  
Main Diagnosis ◽  
Delayed Treatment ◽  
High Incidence ◽  
High Level

Klinefelter syndrome is a chromosomal pathology, which is the most common anomaly of sex chromosomes and the most common form of primary male hypogonadism. The presence of an extra X-chromosome in the karyotype causes infertility, azoospermia, small size of testicles, high level of gonadotropins and low level of testosterone, tallness and disproportionate physique, learning difficulties, and developmental speech disorders. Despite the high incidence of the syndrome in the population, only 25% of patients are aware of their disease during their lifetime. Late diagnosis and delayed treatment are often due to pronounced clinical polymorphism of the disease, different symptom onset time, as well as high incidence of associated conditions, so that these patients are followed by various specialists, but they are not aware of the main diagnosis. This review presents data on the history, etiology of the syndrome, clinical and laboratory features characteristic of children, adolescents, and adults. The most common associated diseases are listed and current data on their prevalence and the effect of testosterone replacement therapy on these conditions are provided.

47,XXY With Associated Bilateral Renal Agenesis

2004 ◽  
Vol 128 (3) ◽  
pp. e44-e45
Author(s):  
Julieta E. Barroeta ◽  
Gary A. Stopyra
Keyword(s):  
Urinary Tract ◽  
Gestational Age ◽  
Cytogenetic Analysis ◽  
Congenital Abnormalities ◽  
Renal Agenesis ◽  
Klinefelter Syndrome ◽  
Unilateral Renal Agenesis ◽  
Potter Sequence ◽  
First Case ◽  
Urinary Tract Anomalies

Abstract We describe the case of a 36-week gestational-age male stillborn with bilateral renal agenesis and a 47,XXY karyotype, as well as features of Potter sequence. No other congenital abnormalities were noted. Severe oligohydramnios was diagnosed prenatally at 30 weeks, and cytogenetic analysis was performed postmortem. Urinary tract anomalies are uncommon in association with Klinefelter syndrome. Unilateral renal agenesis has been described. We describe, to our knowledge, the first case of bilateral renal agenesis in association with 47,XXY.

Obesity

2020 ◽  
pp. 225-252
Author(s):  
Gary Butler ◽  
Jeremy Kirk
Keyword(s):  
Cushing Syndrome ◽  
Bone Age ◽  
Melanocortin Receptor ◽  
Hormone Deficiency ◽  
Endocrine Disorders ◽  
Tall Stature ◽  
Genetic Syndromes ◽  
Monogenic Disorders ◽  
Dysmorphic Features ◽  
Significant Impairment

• Obesity is defined as: ‘An excess of body fat frequently resulting in a significant impairment of health and longevity’. • In most cases obesity is not due to an underlying endocrine disorder, although it may produce endocrine morbidity such as type 2 diabetes. • Although there are a number of different methods to assess overweight and obesity, the most common is body mass index (BMI): weight (kg)/height (m)2. • Classification is: • primary: exogenous or ‘simple’ obesity • secondary: ■ identified genetic syndromes, e.g. Prader–Willi, Bardet–Biedl, pseudohypoparathyroidism ■ monogenic disorders, e.g. leptin deficiency, leptin/melanocortin receptor defects ■ CNS disease, e.g. hypothalamic obesity ■ endocrine disorders, e.g. hypothyroidism, Cushing syndrome, growth hormone deficiency, precocious puberty ■ immobility, e.g. cerebral palsy ■ iatrogenic. • Generally, children with obesity which is: • primary often have a family history, tall stature, advanced bone age, and no dysmorphic features • secondary often have short stature, delayed bone age, dysmorphic features, and developmental delay. • Complications of obesity are multisystem: metabolic, cardiovascular, respiratory, gastrointestinal/hepatic, orthopaedic, neurological, dermatological, gynaecological, and psychological. • Therapy is aimed at modifiable factors restoring the balance between energy intake (e.g. dietary) and expenditure (e.g. exercise), and preferably a combination of both along with counselling and behaviour modification. There is currently only limited data on the benefits of pharmacotherapy and bariatric surgery.

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.

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