Sexual Infantilism

01/01/1993 - "In response to combined treatment (zinc sulfate+parlodel) in the former two patients and norcolute therapy in the latter one body mass and growth increased in all the 3. The discussion is concerned with mechanisms of developmental defects in nephropathies, comparative efficacy of the drugs used and social rehabilitation of nephropathy girls with small height and sexual infantilism."

01/01/1993 - "In response to combined treatment (zinc sulfate+parlodel) in the former two patients and norcolute therapy in the latter one body mass and growth increased in all the 3. The discussion is concerned with mechanisms of developmental defects in nephropathies, comparative efficacy of the drugs used and social rehabilitation of nephropathy girls with small height and sexual infantilism."

08/01/1964 - "PSYCHOLOGICAL STUDIES OF ADULT MALE PATIENTS WITH SEXUAL INFANTILISM BEFORE AND AFTER ANDROGEN THERAPY."
02/01/2018 - "Primary amenorrhea and sexual infantilism were present in 95% patients, and 73% were at Tanner stage I. All had low-to-undetectable estrogens and androgens with elevated gonadotropins and progesterone (580 ± 53 ng/dL). "

04/01/2009 - "The deficiency of 17 alpha-hydroxylase/17,20-lyase causes a rare autosomal recessive disorder presenting with congenital adrenal insufficiency (CAH) and sexual infantilism. "
02/28/2022 - "Impaired 17α-hydroxylase and 17,20-lyase activities typically induce hypertension, hypokalemia, sexual infantilism, and amenorrhea. "
02/01/2008 - "Mutations in the gene encoding for CYP17 result in 17alpha-hydroxylase deficiency (17OHD), a rare form of congenital adrenal hyperplasia, a disorder characterized by adrenal insufficiency, hypertension, primary amenorrhea and sexual infantilism. "
01/01/2017 - "Loss of 17,20-lyase activity precludes sex steroid synthesis and leads to sexual infantilism. "
03/01/2021 - "Here, we report 2 phenotypic females with 17α-hydroxylase/17,20-lyase deficiency: one with the 46,XX karyotype presenting primary amenorrhea and sexual infantilism, and the other with the 46,XY karyotype presenting a disorder of sexual development. "

03/01/2021 - "Here, we report 2 phenotypic females with 17α-hydroxylase/17,20-lyase deficiency: one with the 46,XX karyotype presenting primary amenorrhea and sexual infantilism, and the other with the 46,XY karyotype presenting a disorder of sexual development. "
05/01/2015 - "Loss-of-function mutations of this gene cause 17α-hydroxylase/17,20-lyase deficiency, characterized by hypertension, hypokalemia and sexual infantilism. "
01/01/2015 - "A homozygous mutation c.985_987delTACinsAA (p.Y329KfsX418) in Exon 6 was found in patient 1, and a homozygous deletion mutation c.1459_1467delGACTCTTTC (p.Asp487_Phe489del) in exon 8 in patient 2. The patients manifested with hypertension, hypokalemia, sexual infantilism should be suspected of having 17a-hydroxylase/17,20-lyase deficiency. "
01/01/2014 - "17α-hydroxylase/17,20-lyase deficiency is a rare form of congenital adrenal hyperplasia, characterized by hypertension and sexual infantilism and caused by loss-of-function mutations in CYP17A1. "
08/01/2009 - "Combined 17alpha-hydroxylase/17,20-lyase deficiency is a rare autosomal recessive form of congenital adrenal hyperplasia presenting with hypertension and sexual infantilism. "

05/09/2017 - "Concurrent lack of sex steroids results in sexual infantilism without ambiguity. "
10/01/2007 - "Incomplete 17 OHD is a very rare form of congenital enzymatic deficiencies of steroid synthesis, which should be included in the differential diagnosis when there are menstrual disorders, sexual infantilism, recurrent ovarian cysts or ambiguous genitalia. "
01/01/2017 - "Loss of 17,20-lyase activity precludes sex steroid synthesis and leads to sexual infantilism. "
01/01/2011 - "Our data suggest that sex steroid priming is a feasible method of induction of physiological puberty in β-TM patients with sexual infantilism and reversible apulsatile HH, especially in younger patients with minimal iron loads."
08/01/2010 - "We have also discussed clinical features, diagnosis, and management strategies of growth retardation, sexual infantilism, pubertal aberrations, and scope of growth hormone, sex steroids, and other endocrine therapies. "

01/01/2023 - "Lack of CYP17A1 prevents sex steroid biosynthesis, yielding a female phenotype in 46, XY males and sexual infantilism in both sexes; overproduction of 11-deoxycorticosterone (DOC) in the zona fasciculata typically causes mineralocorticoid hypertension. "
12/15/2006 - "Biglieri et al. in 1966 in patients with sexual infantilism, pronounced excess mineralocorticoids with salt retention and arterial hypertension. "
07/01/1994 - "The consequent defects in the synthesis of cortisol and sex steroids cause sexual infantilism and a female phenotype in both genetic sexes as well as mineralocorticoid excess and hypertension. "
08/01/2010 - "17OHD is a rare form of congenital adrenal hyperplasia in which defects in the biosynthesis of cortisol and sex steroids result in mineralocorticoid excess, hypokalemic hypertension, and sexual abnormalities such as pseudohermaphroditism in males, and sexual infantilism in females. "
08/01/1993 - "17 alpha-Hydroxylase deficiency blocks the biosynthesis of cortisol and sex steroids, resulting in mineralocorticoid excess, hypertension, sexual infantilism, and female phenotype in both genetic sexes. "

07/01/1994 - "The consequent defects in the synthesis of cortisol and sex steroids cause sexual infantilism and a female phenotype in both genetic sexes as well as mineralocorticoid excess and hypertension. "
08/01/2010 - "17OHD is a rare form of congenital adrenal hyperplasia in which defects in the biosynthesis of cortisol and sex steroids result in mineralocorticoid excess, hypokalemic hypertension, and sexual abnormalities such as pseudohermaphroditism in males, and sexual infantilism in females. "
04/25/2006 - "17alpha-Hydroxylase deficiency is a rare disease caused by mutation of the CYP17 gene, resulting in hypertension, hypokalemia, female sexual infantilism or male pseudohermaphroditism, low blood cortisol and low plasma renin activity. "
08/01/1993 - "17 alpha-Hydroxylase deficiency blocks the biosynthesis of cortisol and sex steroids, resulting in mineralocorticoid excess, hypertension, sexual infantilism, and female phenotype in both genetic sexes. "
02/01/2006 - "Seventeen alpha-hydroxylase deficiency (17OHD) is a rare form of congenital adrenal hyperplasia in which defects in the biosynthesis of cortisol and sex steroid result in mineralocorticoid excess, hypokalemic hypertension and sexual abnormalities such as pseudohermaphroditism in males, and sexual infantilism in females. "

10/01/1947 - "The syndrome of congenitally aplastic ovaries with sexual infantilism, high urinary gonadotropins, short stature and other congenital abnormalities; tabular presentation of 25 previously unpublished cases."
05/01/2003 - "Women who present with elevated gonadotropins, primary amenorrhea, and sexual infantilism usually have an abnormal karyotype or premature ovarian failure. "
01/01/1953 - "[Syndrome of congenital aplasia of the ovaries with sexual infantilism; discrete increase of urinary gonadotropins, estrogen insufficiency and congenital malformations (Turner-Albright syndrome)]."
07/01/2011 - "Patients with primary amenorrhea, sexual infantilism and elevated pituitary gonadotropins are frequently diagnosed with hypogonadism hypergonadotropic and suspected ovarian failure, secondary to a chromosomal abnormality, intrinsic ovarian failure or altered receptors for gonadotropins, mainly FSH (ovarian resistance). "
02/01/2018 - "Primary amenorrhea and sexual infantilism were present in 95% patients, and 73% were at Tanner stage I. All had low-to-undetectable estrogens and androgens with elevated gonadotropins and progesterone (580 ± 53 ng/dL). "

09/01/1974 - "[Estrogen levels in the blood of parturients with signs of genital infantilism]."
03/01/1994 - "To the obligatory symptoms of the syndrome belong primary amenorrhoea, sexual infantilism, elevated values only of FSH and very reduced levels of estrogens, chromosomal aberrations in karyotype, most often 45, X and presence of streak gonads. "
01/01/1953 - "[Syndrome of congenital aplasia of the ovaries with sexual infantilism; discrete increase of urinary gonadotropins, estrogen insufficiency and congenital malformations (Turner-Albright syndrome)]."
02/01/2018 - "Primary amenorrhea and sexual infantilism were present in 95% patients, and 73% were at Tanner stage I. All had low-to-undetectable estrogens and androgens with elevated gonadotropins and progesterone (580 ± 53 ng/dL). "

08/01/1964 - "PSYCHOLOGICAL STUDIES OF ADULT MALE PATIENTS WITH SEXUAL INFANTILISM BEFORE AND AFTER ANDROGEN THERAPY."
01/01/1993 - "In response to combined treatment (zinc sulfate+parlodel) in the former two patients and norcolute therapy in the latter one body mass and growth increased in all the 3. The discussion is concerned with mechanisms of developmental defects in nephropathies, comparative efficacy of the drugs used and social rehabilitation of nephropathy girls with small height and sexual infantilism."
08/01/2010 - "We have also discussed clinical features, diagnosis, and management strategies of growth retardation, sexual infantilism, pubertal aberrations, and scope of growth hormone, sex steroids, and other endocrine therapies. "