Buscar
Mostrando ítems 1-10 de 69
2 CASES OF YAUTOSOME TRANSLOCATIONS - A 45,X MALE AND A CLINICALLY TRISOMY-18 PATIENT
(Wiley-lissNew York, 1994)
The degree of external genitalia virilization in girls with 21-hydroxylase deficiency appears to be influenced by the CAG repeats in the androgen receptor gene
(BLACKWELL PUBLISHING, 2008)
Background Women with 21-hydroxylase deficiency present much variability in external genitalia virilization, even among those with similar impairments of 21-hydroxylase (21OH) activity. Objective To evaluate if the number ...
Congenital perineal lipoma presenting as ambiguous genitalia
(Georg Thieme Verlag KgStuttgartAlemanha, 2008)
Testicular anti-müllerian hormone: Clinical applications in DSD
(Thieme Medical Publ Inc, 2012-06)
Male fetal sexual differentiation of the genitalia is driven by Leydig cell-secreted androgens and Sertoli cell-secreted anti-Müllerian hormone (AMH). Disorders of sex development (DSD) may be due to abnormal morphogenesis ...
Diagnosis and treatment of disorders of sexual development
(Elsevier, 2016)
-Wolffian ducts, the urogenital sinus and external genitalia virilize in proportion to androgen activity (androgen levels and androgen receptor expression in target organs) during the first trimester of fetal life. Müllerian ...
Inactivating Mutations of the Human Luteinizing Hormone Receptor in Both Sexes
(THIEME MEDICAL PUBL INCNEW YORK, 2012)
The human luteinizing hormone/chorionic gonadotropin receptor (LHCGR) plays a fundamental role in male and female reproductive physiology. Over the past 15 years, several homozygous or compound heterozygous loss-of-function ...
When Hormone Defects Cannot Explain It: Malformative Disorders of Sex Development
(Wiley, 2014-12)
The birth of a baby with malformations of the genitalia urges medical action. Even in cases where the condition is not life-threatening, the identification of the external genitalia as male or female is emotionally essential ...
Hypogonadotropic Hypogonadism in Infants with Congenital Hypopituitarism: A Challenge toDiagnose at an Early Stage
(Karger, 2015-09)
Background: Combined pituitary hormone deficiency (CPHD) presents a wide spectrum of pituitary gland disorders. The postnatal gonadotropic surge provides a useful period to explore the gonadotropic axis for assessing the ...