CORRELATIONS BETWEEN FIBROBLAST ANDROGEN RECEPTOR LEVELS and CLINICAL FEATURES IN ABNORMAL MALE SEXUAL DIFFERENTIATION and INFERTILITY

Abstract

Androgen receptor binding of radiolabelled methyltrienolone (3H-R1881) was determined in cultured genital skin fibroblasts from 17 normal male controls and from 65 males with genital abnormalities. Analysis of the results was performed with patients grouped according to the predominant clinical features. Of 16 patients with complete male pseudohermaphroditism, 12 had androgen receptor (AR) deficiency, one had "receptor-positive" Testicular Feminization, and in three, alternative diagnoses were established (17 alpha hydroxylase deficiency; 20,22-desmolase deficiency; mixed gonadal dysgenesis). In contrast, only four of 16 patients investigated for ambiguous genitalia (phallus intermediate between male and female, perineal urethra) showed AR deficiency. Borderline or slightly low AR levels were found in each of four boys in whom the sole abnormality was micropenis. In 26 boys with penile hypospadias, however, only one had low AR. Very low levels of AR (levels comparable to those seen in complete Testicular Feminization) were found in two of three men with infertility associated with abnormally high serum testosterone levels.

Sex Differences in Righting From Supine to Prone in Rats (Rattus norvegicus): A Masculinized Skeletomusculature Is Not Required.

“…The study of sex-typical patterns of motor organization, together with the study of genetic mutations, provides a rich source of animal models that can be used to elucidate the potential contributions of various neural systems and their interaction with hormonal states in the development of motor control. The testicular feminized mutation model (TFM) has been documented in a number of species including cats (Meyers-Wallen et al, 1989), mice (Lyon & Hawkes, 1970), nonhuman primates (Eli et al, 1980), and humans (Kaufman, Pinsky, & Feder-Hollander, 1981; Keenan, Meyer, Hadjian, Jones, & Midgeon, 1974; Warne, Gyorki, Risbridger, Khalid, & Funder, 1984). Currently, the TFM model is used primarily to study the interplay of genes, gonadal hormones, and development of CNS anatomy (Freeman, Padgett, Prins, & Breedlove, 1995; Freeman, Watson, & Breedlove, 1996; Forger, Wong, & Breedlove, 1995; Monks, Vanston, & Watson, 1999; Monks & Watson, 2001; Watson, Freeman, & Breedlove, 2001).…”

Short Sleep Duration and Obesity Among Children

“…DNA was isolated from penile skin fibroblasts stored in liquid nitrogen from an affected member of the family who was ascertained at 2 years of age (Te 2a). 5 The study was conducted with approval covering several stages of investigation from the Ethics in Human Research Committee of the Royal Children's Hospital Melbourne, and informed parental consent was obtained with the assistance of an interpreter. Libraries were prepared using the Sure Select Human All Exon V4 kit (Agilent, Santa Clara, CA, USA).…”

Another Look at Hereditary Partial Androgen Insensitivity Syndrome in an Indigenous Community in the Northern Territory of Australia

“…DNA was isolated from penile skin fibroblasts stored in liquid nitrogen from an affected member of the family who was ascertained at 2 years of age (Te 2a). 5 The study was conducted with approval covering several stages of investigation from the Ethics in Human Research Committee of the Royal Children's Hospital Melbourne, and informed parental consent was obtained with the assistance of an interpreter. Libraries were prepared using the Sure Select Human All Exon V4 kit (Agilent, Santa Clara, CA, USA Our patient harboured a single missense mutation (L812F) in exon 5 of the AR gene, a substitution of phenylalanine for leucine at position 812).…”