Subject(s)
Fat Necrosis/blood , Hypercalcemia/etiology , Calcium/blood , Cesarean Section , Fat Necrosis/complications , Female , Gestational Age , Humans , Male , Pregnancy , Skin Diseases/etiologyABSTRACT
Exercise stimulation tests for growth hormone were performed in two groups of children: 163 patients aged 4 to 20 years had growth hormone measured before and after exercise, and 28 children had growth hormone checked only after excercise. Of 180 exercise stimulation tests performed in the first group, 124 showed an adequate growth hormone response as did 23 of 29 such tests in the second group. Careful instruction and preparation of patients for exercise screening of growth hormone leads to an accuracy for this test of nearly 80 percent.
Subject(s)
Growth Disorders/blood , Growth Hormone/deficiency , Physical Exertion , Adolescent , Adult , Child , Child, Preschool , Family Practice , Growth Disorders/diagnosis , Growth Hormone/blood , HumansABSTRACT
The mosaic karyotype XO/XY is expressed by a spectrum of genital phenotypes, ranging from normal male through ambiguous genitalia to normal female. The urologist may see some of these patients because of the following clinical presentations: 1) ambiguous genitalia with a chromatin-negative buccal smear, 2) hypospadias with cryptorchidism or 3) cryptorchidism with müllerian remnants, discovered unexpectedly during inguinal operations. Reliable karyotyping is mandatory for diagnosis of XO/XY patients. Management should include laparotomy with excision of any intra-abdominal gonads (testis and/or streak gonad) because these are prone to develop malignancies that may occur before puberty. Female sex assignment and a reconstructive operation are advised in cases with severely deficient virilization of the genitalia.
Subject(s)
Disorders of Sex Development/genetics , Genitalia/abnormalities , Mosaicism , Cryptorchidism/genetics , Cryptorchidism/surgery , Disorders of Sex Development/diagnosis , Disorders of Sex Development/surgery , Genitalia/surgery , Humans , Hypospadias/genetics , Hypospadias/surgery , Infant , Karyotyping , MaleABSTRACT
Acromesomelic dwarfism is a distinct condition characterized by short stature of the short limb type, with the hands and feet showing the most obvious deviations from normal. The forearm bones are usually disproportionately shorter than the other long tubular bones of the limbs. The intelligence is normal. Available data suggest autosomal recessive transmission. Characteristic clinical and radiographic features permit establishment of a confident diagnosis in the first year of life.
Subject(s)
Bone and Bones/abnormalities , Dwarfism/diagnosis , Achondroplasia/diagnosis , Bone and Bones/diagnostic imaging , Child , Child, Preschool , Diagnosis, Differential , Dwarfism/diagnostic imaging , Dwarfism/genetics , Female , Forearm/abnormalities , Hand Deformities, Congenital , Humans , Infant , Male , Phenotype , Radiography , Spine/abnormalitiesABSTRACT
An 11-year-old boy had Cushing syndrome with profound growth retardation, but without the associated clinical characteristics of the disease. Treatment with growth hormone failed to promote growth, suggesting that growth failure in the presence of excess glucocorticoids is due to peripheral tissue resistance to growth hormone rather than to impairment of growth hormone secretion.
Subject(s)
Cushing Syndrome/complications , Growth Disorders/etiology , Adolescent , Child , Cushing Syndrome/blood , Cushing Syndrome/diagnosis , Glucocorticoids/pharmacology , Growth Hormone/blood , Humans , MaleABSTRACT
To evaluate the usefulness of blood testosterone (T) in monitoring the effects of therapy in congenital virilizing adrenal hyperplasia due to 21- or 11- hydroxylation defect (CVAH), T levels were measured on 45 occasions in 13 patients with CVAH; 32 urinary 17-ketosteroid levels and 31 preganetriol values were available for comparison. Bone age levels, growth data, and medication are listed to help assess the clinical state of the patient at the time of each T determination. Blood T values were above normal for age and sex in untreated patients with CVAH and declined with glucocorticoid suppression. A blood T value of 20 ng/100 ml appeared to distinguish between well-controlled cases and those with inadequate steroid suppression. Serial measurement of blood T in girls and in prepubertal boys with CVAH provides assistance in evaluating chemical control of the disease, particularly when accurate 24-h urine collections cannot be obtained for 17-ketosteroid and pregnanetriol assessments.
