✦ LIBER ✦

Kenny-Caffey syndrome and microorchidism

✍ Scribed by Hoffman, William H.; Kovacs, Kalman; Li, Shibo; Kulharya, Anita S.; Johnson, Bruce L.; Eidson, Margaret S.; Cleveland, William W.

Publisher: John Wiley and Sons
Year: 1998
Tongue: English
Weight: 32 KB
Volume: 80
Category: Article
ISSN: 0148-7299
DOI: 10.1002/(sici)1096-8628(19981102)80:2<107::aid-ajmg3>3.0.co;2-v

No coin nor oath required. For personal study only.

✦ Synopsis

We report on two adolescent boys with Kenny-Caffey syndrome and microorchidism. The first patient had elevated levels of serum follicle-stimulating hormone, but normal levels of luteinizing hormone and testosterone. There was no evidence of a microdeletion of the Y chromosome. The second patient had Leydig cell hyperplasia with normal seminiferous tubules and spermatogenesis, and normal pituitary histologic findings at autopsy. The presence of microorchidism in these patients confirms the previous observations and suggests subfertility, but does not fully clarify the pathogenesis. Am.

📜 SIMILAR VOLUMES

The Kenny-Caffey syndrome: Growth retard

The Kenny-Caffey syndrome: Growth retardation and hypocalcemia in a young boy

✍ Lee, W. K. ;Vargas, A. ;Barnes, J. ;Root, A. W. 📂 Article 📅 1983 🏛 John Wiley and Sons 🌐 English ⚖ 520 KB

## Abstract A 2‐year‐old black boy with the Kenny‐Caffey syndrome was first evaluated because of growth retardation and hypocalcemia. Hypothalamic‐pituitary function was normal. Basal serum somatomedin C levels were normal for age, but did not increase during short‐term administration of human grow

Kenny-Caffey syndrome in six Bedouin sib

Kenny-Caffey syndrome in six Bedouin sibships: Autosomal recessive inheritance is confirmed

✍ S. Khan, K. Tahseen; Uma, R.; Usha, R.; Al Ghanem, M. M.; Al Awadi, S. A.; Farag 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 406 KB

We are reporting on 16 children, in 6 unrelated sibships, born to healthy, consanguineous parents of Bedouin ancestry. Eleven of them were assessed clinically. All presented with marked growth retardation, craniofacial anomalies, small hands and feet, hypocalcemia, hypoparathyroidism, radiological e

The Caffey Syndrome

✍ Richard O’Brien 📂 Article 📅 1976 🏛 Elsevier 🌐 English ⚖ 276 KB

failure; the detection of Barr bodies in interphase nuclei from hair-root cells. The monograph is written in a straightforward style and its author is clearly completely au fait with his subject. The difficulties likely to be encountered, the importance of operator experience and the necessity for

Kenny-Caffey syndrome in two sibs born t

Kenny-Caffey syndrome in two sibs born to consanguineous parents: Evidence for an autosomal recessive variant

✍ Franceschini, P. ;Testa, A. ;Bogetti, G. ;Girardo, E. ;Guala, A. ;Lopez-Bell, G. 📂 Article 📅 1992 🏛 John Wiley and Sons 🌐 English ⚖ 451 KB 👁 2 views

Sanjad-Sakati and autosomal recessive Ke

Sanjad-Sakati and autosomal recessive Kenny-Caffey syndromes are allelic: Evidence for an ancestral founder mutation and locus refinement

✍ Diaz, G.A.; Gelb, B.D.; Ali, F.; Sakati, N.; Sanjad, S.; Meyer, B.F.; Kambouris, 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 33 KB 👁 2 views

T h e S a n j a d -S a k a t i s y n d r o m e ( S S S ; MIM241410), an autosomal recessive trait characterized by congenital hypoparathyroidism, growth and mental retardation, seizures, and a characteristic physiognomy, was recently linked to chromosome area 1q42-q43. SSS resembles the autosomal re

Kenny syndrome: description of additiona

Kenny syndrome: description of additional abnormalities and molecular studies

✍ I. Bergada; A. Schiffrin; H. Srair; P. Kaplan; J. Dornan; D. Goltzman; G. N. Hen 📂 Article 📅 1988 🏛 Springer 🌐 English ⚖ 617 KB

An 18-month-old girl presented with clinical manifestations of Kenny syndrome including growth retardation, ophthalmologic abnormalities, a persistent open anterior fontanel, dysmorphic facies, anemia, radiologic skeletal abnormalities, and severe hypoparathyroidism. Analysis of restriction patterns