ON GENETICALLY DETERMINED PITUITARY DWARFISM

1964 ◽  
Vol 45 (3_Suppl) ◽  
pp. S27 ◽  
Author(s):  
J. R. Bierich
Keyword(s):  
Pituitary Dwarfism ◽  
Genetically Determined

Ultrastructural alterations in the fetal mouse myocardium in response to genetic and environmental factors

1987 ◽  
Vol 45 ◽  
pp. 724-725
Author(s):  
K.C. Feng-Chen ◽  
F.B. Essien ◽  
K.J. Prestwidge ◽  
J.T. Cheng ◽  
C.L. Shen
Keyword(s):  
Fetal Heart ◽  
Perinatal Period ◽  
Primary Energy ◽  
Cardiac Contraction ◽  
Ultrastructural Changes ◽  
Fetal Mouse ◽  
The Subject ◽  
Physiological Adjustments ◽  
Genetic And Environmental Factors ◽  
Genetically Determined

The physiology of the fetal heart differs significantly from that of the mature post-natal organ: e.g., the metabolic supply for adult cardiac contraction relies mainly on fatty acids; whereas, the fetal heart uses carbohydrates as its primary energy source. Limited morphological descriptions of the developing myocardium have appeared. However, additional studies are required to elucidate the ultrastructural changes occuring in the perinatal period when enormous physiological adjustments are made. Although adult animals are most often used in toxocological and pathological analyses, it is also important to investigate fetal cardiac responsiveness to various agents. The vulnerability of the ultrastructure of the fetal mouse myocardium to genetic and environmental assault is the subject of this report. The genetically determined effect on the heart was observed in mouse embryos homozygous for the cab (cardiac abnormality) mutation discovered by Essien.

Persistence of the striatal hypertrophy at the symptomatic stage of genetically determined and idiopathic parkinsonism

2006 ◽  
Vol 33 (S 1) ◽  
Author(s):  
K. Lasek ◽  
C. Klein ◽  
C. Gaser ◽  
J. Hagenah ◽  
C. Büchel ◽  
...  
Keyword(s):  
Idiopathic Parkinsonism ◽  
Genetically Determined

Primary Amenorrhoea with Pituitary Dwarfism: A rare case report

2016 ◽  
Vol 2 (2) ◽  
pp. 145-147
Author(s):  
Siva S ◽  
Divya Gopineni ◽  
Shafi P ◽  
Chandra Sekhar
Keyword(s):  
Pituitary Gland ◽  
General Medicine ◽  
Pituitary Hormones ◽  
Thyroid Stimulating Hormone ◽  
Primary Amenorrhea ◽  
Pituitary Dwarfism ◽  
Primary Amenorrhoea ◽  
Sexual Characteristics ◽  
Loss Of Appetite ◽  
Secondary Sexual

Females with pituitary dwarfism and a multiple deficiency of pituitary hormones show ovarian dysfunction due to hypogonadotropism. Primary amenorrhea can be diagnosed if a patient has normal secondary sexual characteristics but no menarche by 16 years of age. A 16 year-old female patient admitted in general medicine department with chief complaints of shortness of breath on exertion since 15 days, swelling of both legs since 10 days, loss of weight since 5 months, loss of appetite since 3 months, history of pain during swallowing. Pelvis scan examination reveals that uterus measures 3.2×0.5×0.5cm; uterus is hypo plastic, ovaries not visualized. Patient parents reveled that from patient birth to 11years of age her growth and other developments were normal, after that her growth is stopped and no changes were observed in development since 5 years. Patient has hypothyroidism so pituitary gland make an important role to maintain hormone levels, pituitary gland produces thyroid stimulating hormone (TSH) which stimulates thyroid gland to produce thyroid hormones. Primary Amenorrhea, short stature and poorly developed secondary sexual characters which could have been contributed and should be subjected for karyotyping. This type of Pituitary Dwarfism is very difficult to manage.

CLINICAL AND ENDOCRINOLOGICAL EVALUATION OF GENETICALLY DETERMINED DWARFISM

1973 ◽  
Vol 71 (4_Suppl) ◽  
pp. S100 ◽  
Author(s):  
D. Schönberg ◽  
J. R. Bierich
Keyword(s):  
Genetically Determined

A Case Of Prader-Willi Syndrome With Behavioural Disturbances: A Successful Multidisciplinary Management Approach

2020 ◽  
Vol 5 (1) ◽  
pp. 83
Author(s):  
Nor Jannah Nasution Raduan ◽  
Mohd Razali Salleh ◽  
Norharlina Bahar ◽  
Mohd Faiz Md Tahir ◽  
Najwa Hanim Md Rosli
Keyword(s):  
Neurodevelopmental Disorder ◽  
Pressure Control ◽  
Family Therapist ◽  
Sleep Apnoea ◽  
Obstructive Sleep Apnoea Syndrome ◽  
Management Approach ◽  
Adolescent Psychiatrist ◽  
Prader Willi Syndrome ◽  
Obstructive Sleep ◽  
Genetically Determined

Prader-Willi Syndrome (PWS) is a genetically determined neurodevelopmental disorder occurring in 1 in 15,000 births. PWS is a rare case in Malaysia and a successful approach to its management has not been well reported here. We present a case of a 13-year-old boy with Prader-Willi Syndrome with prominent behavioural disturbances characterised by temper tantrums, compulsive food intake, stubbornness, stealing and impulsivity further complicated by underlying morbid obesity, poorly controlled type 2 diabetes mellitus, hypertension, dyslipidaemia, obstructive sleep apnoea syndrome and intellectual disability. Multidisciplinary approach involving child and adolescent psychiatrist, occupational therapist, counsellor, family therapist, endocrinologist and dietician has shown to improve the patient’s weight, glucose and blood pressure control and most importantly the behavioural disturbances.

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