A case of Klinefelter's syndrome with acquired hypopituitarism

1984 ◽  
Vol 105 (1) ◽  
pp. 126-129 ◽  
Author(s):  
D. N. Maisey ◽  
I. H. Mills ◽  
H. Middleton ◽  
I. G. Williams
Keyword(s):  
Anterior Pituitary ◽  
Case Reports ◽  
Adult Life ◽  
Klinefelter’S Syndrome ◽  
Standard Laboratory ◽  
Klinefelter's Syndrome ◽  
Secondary Sexual Characteristics ◽  
Sexual Characteristics ◽  
Anterior Pituitary Function ◽  
Post Traumatic

Abstract. The association of Klinefelter's syndrome (KS) and hypopituitarism has been described in previous isolated case reports, in most of which the hypopituitarism was partial. A case is described of a man with KS who acquired hypopituitarism in adult life. The diagnosis of KS was made at the age of 25 years on standard laboratory tests when he presented with failure of ejaculation and typical clinical features. Thirteen years later he presented with anaemia and further regression of secondary sexual characteristics. All aspects of anterior pituitary function were abnormal. The cause of the hypopituitarism was not determined, but may have been post-traumatic.

scholarly journals A Rare Double Aneuploidy Case (Down–Klinefelter)

2017 ◽  
Vol 06 (04) ◽  
pp. 241-243 ◽  
Author(s):  
Atil Bisgin ◽  
Sevcan Bozdogan
Keyword(s):  
Septal Defect ◽  
Case Reports ◽  
Ductus Arteriosus ◽  
Down's Syndrome ◽  
Down’S Syndrome ◽  
Klinefelter’S Syndrome ◽  
Klinefelter's Syndrome ◽  
A Current ◽  
Patent Ductus ◽  
Double Aneuploidy

AbstractDown's syndrome has its own dysmorphic findings and is accompanied by mental retardation and hypotonia. Klinefelter's syndrome is a syndrome caused by a numerical abnormality that affects male physical and cognitive development. This case reports a unique finding of 48,XXY, + 21 and a current literature review. A 4-month-old male patient presented with typical clinical features of Down's syndrome with hypothyroidism, atrial septal defect, ventricular septal defect, and patent ductus arteriosus without any phenotypic signs of Klinefelter's syndrome.

Klinefelter's syndrome associated with mediastinal germ cell neoplasms.

1987 ◽  
Vol 5 (8) ◽  
pp. 1290-1294 ◽  
Author(s):  
C R Nichols ◽  
N A Heerema ◽  
C Palmer ◽  
P J Loehrer ◽  
S D Williams ◽  
...  
Keyword(s):  
Germ Cell ◽  
Germ Cell Tumor ◽  
Case Reports ◽  
Germ Cell Tumors ◽  
Cell Tumor ◽  
Klinefelter’S Syndrome ◽  
Klinefelter's Syndrome ◽  
Cell Neoplasm ◽  
Mediastinal Germ Cell Tumor ◽  
Mediastinal Germ Cell Tumors

Several case reports have suggested an association of primary mediastinal germ cell tumor (PMGCT) and Klinefelter's syndrome (KS). In an effort to confirm this association, 22 patients with mediastinal germ cell tumors had chromosome studies performed in a prospective fashion. Five patients (22%) had karyotypic or pathologic evidence of KS. All of the patients with KS had germ cell tumors of the nonseminomatous subtype and were relatively young (median age, 15 years). The literature confirms the findings of a young median age (18 years), nonseminomatous subtype, and mediastinal location of the germ cell neoplasm. We conclude that patients with KS are predisposed to the development of mediastinal nonseminomatous germ cell cancers.

Case Reports: Primary Yolk Sac Tumor of the Prostate in a Patient With Klinefelter's Syndrome

1995 ◽  
Vol 153 (3S) ◽  
pp. 1066-1069 ◽  
Author(s):  
Howard P. Tay ◽  
Mohamed Bidair ◽  
Ahmed Shabaik ◽  
James H. Gilbaugh ◽  
Joseph D. Schmidt
Keyword(s):  
Case Reports ◽  
Yolk Sac ◽  
Yolk Sac Tumor ◽  
Klinefelter’S Syndrome ◽  
Klinefelter's Syndrome

Adolescence

1984 ◽  
Vol 144 (1) ◽  
pp. 94-97
Author(s):  
Ian Berg
Keyword(s):  
Adult Life ◽  
Compulsory Education ◽  
Further Education ◽  
Physical Growth ◽  
Western Society ◽  
Emotional Maturity ◽  
Secondary Sexual Characteristics ◽  
The Family ◽  
Sexual Characteristics ◽  
The Right

Adolescence is a stage in the development of an individual which links childhood and adult life. Nowadays in Western society adolescence lasts from the early teens, about the time that puberty normally begins, until the early twenties. The main feature of this period is the adoption of adult ways of behaving. There are a number of obvious milestones, the end of compulsory education in the mid-teens and the start of work or further education, the possibility of living independently away from the family and of marriage, as well as the right to drive a car and to vote. Adolescence is accompanied by accelerated physical growth, the development of secondary sexual characteristics, increased emotional maturity, the emergence of a new way of thinking and the formation of a particular identity. A glance at Boorer and Murgatroyd's selected bibliography published in 1972 and the list of references in Rutter's Rock Carling Fellowship Monograph: Changing Youth in a Changing Society (1979) shows the enormous number of books and papers which have been devoted to this period of life. For anyone wanting a readable introduction to the subject of Adolescence, the two relevant chapters of Mussen, Conger and Kagen's (1974) Child Development and Personality can be confidently recommended.

scholarly journals CONGENITAL ABSENCE OF UTERUS

2019 ◽  
Vol 17 (1) ◽  
pp. 24-26
Author(s):  
Sadia Anwar
Keyword(s):  
Sexual Activity ◽  
Case Reports ◽  
Congenital Absence ◽  
Primary Amenorrhea ◽  
Live Births ◽  
Secondary Sexual Characteristics ◽  
Female Sex ◽  
Female Phenotype ◽  
Phenotype Characteristic ◽  
Sexual Characteristics

These are two case reports of females with primary amenorrhea, well developed secondary sexual characteristics and congenital absence of uterus. The incidence of Mayer-Rokitansky-Kuester-Hauser syndrome was not clearly established, but studies indicate a variation of 1/4,000 and 1/5,000 live births of the female sex. The syndrome is characterized by aplasia of the Müllerian duct (uterus and upper two-thirds of the vagina) on a person who has karyotype 46, XX with female phenotype characteristic of primary amenorrhea in adolescence. Treatment is usually delayed until the patient is ready to begin sexual activity.

KLINEFELTER'S SYNDROME, A CLINICAL AND CYTOGENIC STUDY IN TWENTY-FOUR CASES

1967 ◽  
Vol 54 (2_Suppl) ◽  
pp. S5-S48 ◽  
Author(s):  
Klaus Zuppinger ◽  
Eric Engel ◽  
Anne P. Forbes ◽  
Linda Mantooth ◽  
Jane Claffey
Keyword(s):  
Diabetes Mellitus ◽  
Pulmonary Infection ◽  
Gall Bladder Disease ◽  
Varicose Veins ◽  
Adult Life ◽  
Tall Stature ◽  
Klinefelter’S Syndrome ◽  
Klinefelter's Syndrome ◽  
High Incidence ◽  
Close Relatives

ABSTRACT Clinical and cytogenetic studies were made of twenty four patients with Klinefelter's syndrome in order to determine the somatic consequences of X chromosomal overdosage and its effect on the incidence of metabolic and degenerative diseases. Salient features of the group were tall stature, obesity, a high incidence of diabetes mellitus, hyperlipemia, hypercholesterolemia, gall bladder disease, chronic pulmonary infection, peptic ulcer, varicose veins, laboratory indices of hypothyroidism and a disordered personality. There was a striking absence of hypertension, myocardial infarction and rheumatoid arthritis and no case of hyperthyroidism, thyroiditis or gout. Family histories revealed a high incidence of diabetes mellitus in close relatives. Thus the second X chromosome, although it is sequestered in adult life appears to have profound metabolic as well as morphological effects.

Severe anterograde memory deficits post traumatic damage to the thalamus –2 case-reports

2006 ◽  
Vol 37 (03) ◽  
Author(s):  
S Petrova ◽  
K Roll ◽  
C Betzler ◽  
S Lütjen ◽  
H Holthausen
Keyword(s):  
Case Reports ◽  
Memory Deficits ◽  
Post Traumatic ◽  
Traumatic Damage

Sex determination and Y chromosome constitutive heterochromatin

2019 ◽  
Vol 1 (1) ◽  
pp. 1-5
Author(s):  
Abyt Ibraimov
Keyword(s):  
Sex Determination ◽  
Y Chromosome ◽  
Constitutive Heterochromatin ◽  
Sex Differentiation ◽  
Secondary Sexual Characteristics ◽  
Biological Meaning ◽  
Heterochromatin Block ◽  
Sexual Characteristics ◽  
Open Question ◽  
Efficient Elimination

In many animals, including us, the genetic sex is determined at fertilization by sex chromosomes. Seemingly, the sex determination (SD) in human and animals is determined by the amount of constitutive heterochromatin on Y chromosome via cell thermoregulation. It is assumed the medulla and cortex tissue cells in the undifferentiated embryonic gonads (UEG) differ in vulnerability to the increase of the intracellular temperature. If the amount of the Y chromosome constitutive heterochromatin is enough for efficient elimination of heat difference between the nucleus and cytoplasm in rapidly growing UEG cells the medulla tissue survives. Otherwise it doomed to degeneration and a cortex tissue will remain in the UEG. Regardless of whether our assumption is true or not, it remains an open question why on Y chromosome there is a large constitutive heterochromatin block? What is its biological meaning? Does it relate to sex determination, sex differentiation and development of secondary sexual characteristics? If so, what is its mechanism: chemical or physical? There is no scientifically sound answer to these questions.

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