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Biomedical subjects

J Battin

Publications and source records attributed to J Battin.

137 records · Page 8Linked to original sources
PubMedDate not supplied

[21-Hydroxylase deficiency. Clinical expression of heterozygote carriers in a family].

The observation of a neonate who presented with congenital adrenal hyperplasia due to 21-hydroxylase deficiency and of her aunt who presented with primary amenorrhea and hirsutism led to the genetic study of this family. The ACTH stimulation test and HLA typing proved that the young woman was heterozygous for the C-21 block and that the niece presented with the homozygous condition. This case confirms that, in rare cases, the clinical expression of C-21 block may appear in heterozygous carriers.

17-alpha-Hydroxyprogesterone↗
PubMedDate not supplied

[Pelvic echographic data during normal and pathological development in girls].

From a population of 60 normal females divided in 4 groups of 15 according to age and puberty, standards of uterine length and ovarian volume as measured by ultrasonography were established. The length of the uterus increases moderately with age (mean: 26.4 mm under 2 years of age; 29.5 mm from 2 to 8 years; 36.5 mm from 8 to 12 years) and significantly with puberty (mean: 60 mm), as does the volume of the ovaries (mean: 0.98 cm3 from 8 to 12 years; 3.4 cm3 after puberty). These standards, confirming former data, allow a better understanding of ultrasonographic findings during pathologic growth in young females, such as precocious puberty, delayed puberty, hypopituitarism, or hyperandrogenism. Thus, this investigation may assume an important part in the diagnosis of disorders of puberty, as it is innocuous and may be repeated as often as necessary during the growth of young patients. As it is non invasive and inexpensive, it could be the first investigation in some of these indications.

Adolescent↗
PubMedDate not supplied

[Coffin-Lowry syndrome and hyperprolinemia].

BACKGROUND: The main features of the Coffin-Lowry syndrome are mental retardation and features of a peculiar pugilistic nose, large ears, tapered fingers, drumstick terminal phalanges by X-rays and kyphoscoliosis. Inheritance is probably X-linked dominant. Its early diagnosis is difficult. CASE REPORT: A 31 month-old boy was admitted for mental retardation. His weight and height were normal, but his facies showed telecanthus, anteverted nares and a prominent frontal region. His hands appeared puffy with bulbous tapering fingers. Amino-acid chromatography showed hyperprolinemia (732 mumol/l) plus iminoglycinuria. His mother had a short stature, mental retardation and similar, although minor, manifestations of the Coffin-Lowry syndrome in her face, hands and fingers. She had moderate hyperprolinemia (391 mumol/l) without hyperglycinuria. The patient's father showed no physical abnormalities, but he also had hyperprolinemia (671 mumol/l) and hyperglycinuria. CONCLUSION: The association of the Coffin-Lowry syndrome and hyperprolinemia in this family seems fortuitous.

Abnormalities, Multiple↗