✦ LIBER ✦

Inherited congenital normofunctional testicular hyperplasia and mental deficiency

✍ Scribed by J. -M. Cantú; H. E. Scaglia; M. Medina; M. González-Diddi; T. Morato; M. E. Moreno; G. Pérez-Palacios

Book ID: 104778181
Publisher: Springer
Year: 1976
Tongue: English
Weight: 803 KB
Volume: 33
Category: Article
ISSN: 0340-6717
DOI: 10.1007/bf00447283

No coin nor oath required. For personal study only.

✦ Synopsis

Four 46,XY siblings with congenital bilateral megalorchidia, marcogenitosomia, and severe mental deficiency were investigated. The testicular size was significantly larger than age-matched normal males. A normal hypothalamic-pituitary gonadotropin function was demonstrated by the finding of normal levels of luteinizing and follicle-stimulating hormones in blood samples drawn at frequent intervals and by normal responses to gonadotropin-releasing hormone and testosterone administration. A normal testicular function was shown by the finding of normal (a) plasma testosterone and estradiol levels, (b) gonadal response to human chorionic gonadotropin, (c) sperm analysis, and (d) morphology and cell architecture of the testes. Adrenal function was found to be within normal limits. These results demonstrated the existence of normofunctional testicular hyperplasia. The family studies suggested that this distinct congenital disorders is inherited as an X-linked recessive trait.

📜 SIMILAR VOLUMES

Inherited congenital normofunctional tes

Inherited congenital normofunctional testicular hyperplasia and mental deficiency

✍ J. M. Cantú; H. E. Scaglia; M. González-Diddi; P. Hernández-Jáuregui; T. Morato; 📂 Article 📅 1978 🏛 Springer 🌐 English ⚖ 544 KB

Three 46,XY unrelated individuals out of 84 postpubertal male inpatients with severe mental deficiency in a psychiatric hospital were found to have megalorchidia and macrogenitosomia. One of the cases had a similarly affected brother. Endocrine studies were performed in two of the cases with similar

THE INCIDENCE OF INHERITED SYPHILIS IN C

THE INCIDENCE OF INHERITED SYPHILIS IN CONGENITAL MENTAL DEFICIENCY

✍ Gordon, J.Leslie 📂 Article 📅 1913 🏛 The Lancet 🌐 English ⚖ 556 KB

Inheritance and Mental Deficiency

📂 Article 📅 1934 🏛 Nature Publishing Group 🌐 English ⚖ 122 KB

Congenital adrenal hyperplasia and P450

Congenital adrenal hyperplasia and P450 oxidoreductase deficiency

✍ Nils Krone; Vivek Dhir; Hannah E. Ivison; Wiebke Arlt 📂 Article 📅 2007 🏛 John Wiley and Sons 🌐 English ⚖ 404 KB

Adrenal and testicular tumours and azoos

Adrenal and testicular tumours and azoospermia in congenital adrenal hyperplasia

✍ WHITE, C. P. ;CARTER, J. N. 📂 Article 📅 1993 🏛 John Wiley and Sons 🌐 English ⚖ 177 KB

Congenital thyroxine binding globulin de

Congenital thyroxine binding globulin deficiency: incidence and inheritance

✍ Malcolm B. Jenkins; Michael W. Steffes 📂 Article 📅 1987 🏛 Springer 🌐 English ⚖ 491 KB

Ninety-nine cases of thyroxine binding globulin (TBG) deficiency (90 males and 9 females) were identified among low-T4 infants after newborn hypothyroid screening. The data indicate that inherited TBG deficiency occurs in at least 1:5,000 newborns (1:2,800 males) and that mild and more pronounced fo