The syndrome of accelerated bone maturation in the newborn infant with dysmorphism and congenital malformations The so-called Marshall-Smith syndrome

1976 ◽  
Vol 5 (1) ◽  
pp. 53-57 ◽  
Author(s):  
M. Hassan ◽  
T. Sutton ◽  
K. Mage ◽  
J. M. Limal ◽  
R. Rappaport
PEDIATRICS ◽  
1974 ◽  
Vol 53 (6) ◽  
pp. 959-959
Author(s):  
Victor Chernick

Although not implicit in the title, this book presents a synopsis of perinatology. The publisher indicates it will be of interest to the house officer, general practitioner and midwife but the author states "the book is intended primarily for those who have the responsibility of the day-to-day care of the newborn infant." The former objective may have been realized but not the latter. There are twenty-two chapters, beginning with prenatal factors which may influence the newborn infant such as maternal disease, drugs, the infant at risk because of previous abnormal pregnancies, metabolic disorders, and congenital malformations.


1994 ◽  
Vol 3 (Supple4) ◽  
pp. 125-127
Author(s):  
Seiji Sato ◽  
Makoto Anzo ◽  
Tsutomu Kamimaki ◽  
Maki Fukami ◽  
Nobutake Matsuo

2014 ◽  
Vol 99 (8) ◽  
pp. E1510-E1518 ◽  
Author(s):  
Ola Nilsson ◽  
Michael H. Guo ◽  
Nancy Dunbar ◽  
Jadranka Popovic ◽  
Daniel Flynn ◽  
...  

2004 ◽  
Vol 132 (suppl. 1) ◽  
pp. 106-108
Author(s):  
Maja Jesic ◽  
Milos Jesic ◽  
Silvija Sajic ◽  
Svjetlana Maglajlic ◽  
Svetislav Necic ◽  
...  

Nonclassic CAH, also termed as late onset of CAH, is a very mild form of 21-hydroxylase deficiency. The incidence of disease is estimated at 0.1% of population. Nonclassic CAH is usually diagnosed in the childhood before the age of 6 to 8 years as premature pubarche. The disease is not common in the infants and usually not before 6 to 8 months. This is a case report of 7-month female infant who was suspected of mild hyperandrogenism because of premature pubarche. The diagnosis was confirmed by mild basal elevation of 17-OHP (5.55 ng/ml) and characteristic hyper-response to ACTH, reaching values of 21 ng/ml, as well as accelerated bone maturation. The conventional treatment of NCAH was initiated, with glucocorticoid therapy (hydrocortisone) for one year and a half. After that period, our decision was to discontinue the hormonal therapy because of the impression that hyperandrogenism was mild (mild deficiency of the enzymes for steroid hormone synthesis). Child?s growth, development and maturation are under constant control.


2019 ◽  
Vol 92 (3) ◽  
pp. 209-213
Author(s):  
Wesley J. Goedegebuure ◽  
Anita C.S. Hokken-Koelega

Introduction:Treatment with aromatase inhibitors (AI) is a potential novel treatment in patients with congenital adrenal hyperplasia (CAH) and advanced bone age (BA), to increase near adult height (NAH). Not much is known about the efficacy of AI treatment in CAH and how AI treatment will influence the management of corticosteroid treatment. Case Presentation:At the age of 6 years and 3 months, a boy with salt-losing CAH presented with a BA 7 years in advance. Treatment with an AI (exemestane) was initiated to decelerate bone maturation. We continued the standard dosage of corticosteroid treatment. Precocious puberty was treated with 4 years of gonadotropin-releasing hormone agonist, while AI treatment was continued until attainment of NAH. His NAH 177.7 cm (–0.8 SDS) was considerably higher than his predicted adult height of 151.3 cm (–4.6 SDS) at the start of AI treatment. The higher serum androgen levels during AI treatment did not result in short adult stature. Discussion/Conclusion:This report shows that AI treatment can adequately decelerate bone maturation, causing predicted adult height to increase significantly in patients of CAH with accelerated bone maturation. We suggest continuing the same corticosteroid dosage during AI treatment and accepting higher serum androgen levels.


1981 ◽  
Vol 137 (3) ◽  
pp. 329-333 ◽  
Author(s):  
P. H. Weisswichert ◽  
G. Knapp ◽  
E. Willich

2019 ◽  
Vol 54 (4) ◽  
pp. 776-780
Author(s):  
Dan N. PADURARU ◽  
◽  
Oana BOTEZAN ◽  
Alexandra BOLOCAN ◽  
Octavian ANDRONIC ◽  
...  

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