scholarly journals Premature pubarche in a child with abnormal 3β-hydroxysteroid dehydrogenase function and Klinefelter syndrome: the intriguing relationship between androgen deficiency and excess

2016 ◽  
Vol 5 (1) ◽  
pp. 57-60 ◽  
Author(s):  
Michele Gortakowski ◽  
Rushika Conroy ◽  
Luisa Aguiar ◽  
Holley Allen
Keyword(s):  
Klinefelter Syndrome ◽  
Hydroxysteroid Dehydrogenase ◽  
Androgen Deficiency ◽  
Premature Pubarche

scholarly journals Androgenetic Alopecia in a Patient with Klinefelter Syndrome: Case Report and Literature Review

2020 ◽  
pp. 1-4
Author(s):  
Waleed Alsalhi ◽  
Antonella Tosti
Keyword(s):  
Case Report ◽  
Klinefelter Syndrome ◽  
Light Therapy ◽  
Androgenetic Alopecia ◽  
Follicle Cells ◽  
Androgen Deficiency ◽  
Case Presentation ◽  
Low Level Light Therapy ◽  
Chromosomal Disorder ◽  
Low Testosterone

<b><i>Introduction:</i></b> Klinefelter syndrome (KS) is defined as (a chromosomal disorder in which males have an extra X chromosome). KS presents clinically with signs of androgen deficiency including low testosterone. Androgenetic alopecia (AGA) develops as a response of the hair follicle cells to androgens in individuals with genetic predisposition. <b><i>Case Presentation:</i></b> We describe a 17-year-old male patient with KS who developed AGA with a Ludwig pattern. <b><i>Conclusion:</i></b> Our patient had a good response to oral minoxidil, finasteride, and low-level light therapy.

Mutation in 3ß-hydroxysteroid dehydrogenase type II associated with pseudohermaphroditism in males and premature pubarche or cryptic expression in females

1994 ◽  
Vol 12 (1) ◽  
pp. 119-122 ◽  
Author(s):  
B B Mendonça ◽  
A J Russell ◽  
M Vasconcelos-Leite ◽  
IJ P Arnhold ◽  
W Bloise ◽  
...  
Keyword(s):  
Hydroxysteroid Dehydrogenase ◽  
Type Ii ◽  
Consanguineous Family ◽  
Unrelated Family ◽  
Coding Sequence ◽  
Menstrual Cycles ◽  
Clinically Normal ◽  
Clinical Consequences ◽  
History Of ◽  
Premature Pubarche

ABSTRACT A mutation (A82T) is described in the coding sequence of the gene for 3ß-hydroxysteroid dehydrogenase (3ß-HSD) type II that is associated with variable clinical consequences. Four homozygotes are described, all of which showed elevated levels of Δ5 steroids consistent with 3ß-HSD deficiency. Two males from a consanguineous family were found to be homozygous for A82T and were affected with pseudohermaphroditism. They differed in their degree of mild salt loss. In the same family a female was found to be homozygous for A82T, but was clinically normal and had no history of premature pubarche or of abnormal menstrual cycles. However, in an apparently unrelated family, the A82T mutation was found in a female affected with premature pubarche. This is the first report of a proven mutation in 3ß-HSD type II associated with premature pubarche.

scholarly journals Delayed Diagnosis of Congenital Adrenal Hyperplasia with Salt Wasting Due to Type II 3β-Hydroxysteroid Dehydrogenase Deficiency

2005 ◽  
Vol 90 (4) ◽  
pp. 2076-2080 ◽  
Author(s):  
Trine H. Johannsen ◽  
Delphine Mallet ◽  
Harriet Dige-Petersen ◽  
Jørn Müller ◽  
Katharina M. Main ◽  
...  
Keyword(s):  
Congenital Adrenal Hyperplasia ◽  
Delayed Diagnosis ◽  
Bone Age ◽  
Hydroxysteroid Dehydrogenase ◽  
Type Ii ◽  
Adrenal Hyperplasia ◽  
Hydroxylase Deficiency ◽  
Salt Wasting ◽  
21 Hydroxylase Deficiency ◽  
Premature Pubarche

Abstract Classical 3β-hydroxysteroid dehydrogenase (3β-HSD) deficiency is a rare cause of congenital adrenal hyperplasia. We report two sisters presenting with delayed diagnoses of classical 3β-HSD, despite salt wasting (SW) episodes in infancy. Sibling 1 was referred for premature pubarche, slight growth acceleration, and advanced bone age, whereas sibling 2 had no signs of virilization. At referral, increased 17α-hydroxyprogesterone associated with premature pubarche at first suggested a nonclassical 21-hydroxylase deficiency. Sequencing of the CYP21 gene showed both girls only heterozygotes (V281L mutation). This result, combined with SW in infancy, suggested a 3β-HSD deficiency because of increased dehydroepiandrosterone sulfate levels. Further hormonal studies showed markedly elevated Δ5-steroids, in particular 17α-hydroxypregnenolone greater than 100 nmol/liter (the clue to the diagnosis) and elevated Δ5-/Δ4-steroid ratios. Sequencing of the type II 3β-HSD gene documented that both girls were compound heterozygotes for T181I and 1105delA mutations. Retrospectively, elevated levels of 17α-hydroxyprogesterone were found on blood spots from Guthrie’s test. There is no previous report of the combination of SW and premature pubarche due to mutations in the type II 3β-HSD gene. Because neonatal diagnosis could have prevented life-threatening crises in these girls, this report further supports the benefits for neonatal screening for congenital adrenal hyperplasia whatever the etiology.

Mutations in the type II 3β-hydroxysteroid dehydrogenase (HSD3B2) gene can cause premature pubarche in girls

2000 ◽  
Vol 52 (1) ◽  
pp. 67-75 ◽  
Author(s):  
Marui ◽  
Castro ◽  
Latronico ◽  
Elias ◽  
Arnhold ◽  
...  
Keyword(s):  
Hydroxysteroid Dehydrogenase ◽  
Type Ii ◽  
Premature Pubarche

Effects and Mechanisms of Acupuncture and Moxibustion on Reproductive Endocrine Function in Male Rats with Partial Androgen Deficiency

2016 ◽  
Vol 34 (2) ◽  
pp. 136-143 ◽  
Author(s):  
Yi Ren ◽  
Xiaoguang Yang ◽  
Yu Zhang ◽  
Ying Wang ◽  
Xuezhi Li
Keyword(s):  
Protein Expression ◽  
Mrna Expression ◽  
Serum Testosterone ◽  
Hydroxysteroid Dehydrogenase ◽  
Endocrine Function ◽  
Male Rats ◽  
Acupuncture Points ◽  
Total Testosterone ◽  
Androgen Deficiency ◽  
Serum Lh

Objectives Partial androgen deficiency of the aging male (PADAM) is characterised by a deficiency in serum androgen levels. Both electroacupuncture (EA) and mild moxibustion (MM) can raise serum testosterone levels in PADAM. We investigated the mechanisms underlying the use of EA and MM in a rodent model of PADAM. Methods Fifty rats received cyclophosphamide injection over 5 consecutive days to induce PADAM, which was verified by comparing total testosterone (TT) and free testosterone (FT) levels with 10 non-PADAM healthy control rats (CON). Successful modelling was confirmed in 43 of 50 rats, 40 of which were randomly divided into untreated (PADAM), EA-treated (PADAM+EA), MM-treated (PADAM+MM), and androlin (AD)-treated (PADAM+AD) groups (n=10 each). EA and MM were administered at BL23 and CV4 acupuncture points for 8 weeks, and no treatment was given to rats in the PADAM and CON groups. Serum levels of luteinising hormone (LH) and follicle-stimulating hormone (FSH), mRNA expression of cytochrome P450c17 (P450c17) and 3β-hydroxysteroid dehydrogenase 1 (3β-HSD1), and protein levels of cytochrome P450 side chain cleavage (P450scc), 17β-hydroxysteroid dehydrogenase 3 (17β-HSD3) and steroidogenic factor 1 (SF-1) were evaluated after 8 weeks. Results Both EA and mild MM significantly increased serum TT and FT levels with MM displaying superiority. P450scc, 17β-HSD3 and SF-1 protein expression, and P450c17 and 3β-HSD1 mRNA expression, were significantly increased and serum LH and FSH levels were significantly decreased in PADAM+EA and PADAM+MM relative to PADAM rats. Moreover, serum LH and FSH levels were significantly lower and 17β-HSD3 protein expression significantly higher in PADAM+MM relative to PADAM+EA rats. Conclusions EA and MM at the BL23 and CV4 acupuncture points appear to be effective treatments for PADAM, and MM displays superior efficacy to EA.

scholarly journals Guidelines for the Diagnosis and Treatment of testosterone deficiency (hypogonadism) in male patients

2017 ◽  
Vol 62 (6) ◽  
pp. 78-80 ◽  
Author(s):  
Ivan I. Dedov ◽  
Galina A. Melnichenko ◽  
Roman V. Rozhivanov ◽  
Dmitriy G. Kurbatov
Keyword(s):  
Testosterone Level ◽  
Klinefelter Syndrome ◽  
Kallmann Syndrome ◽  
Diagnosis And Treatment ◽  
Male Hypogonadism ◽  
Androgen Deficiency ◽  
Testosterone Deficiency ◽  
Male Patients ◽  
Clinical Conditions ◽  
Specific Symptoms

Hypogonadism in male patients defined as testosterone level decrease in serum associated with specific symptoms and/or signs (see the detailed description below) can be observed in case of abnormal changes in testes and/or pituitary such as Klinefelter syndrome, Kallmann syndrome and also in male patients with idiopathic, metabolic or iatrogenic disorders resulting in androgen deficiency. The Guidelines does not review all disorders conditioning development of testosterone deficiency (hypogonadism), but focusing on the options of the clinical conditions of hypogonadism generally observed in male patients. This article contains a supplement to the previously published draft of the guidelines: Dedov I.I., Mel’nichenko G.A., Rozhivanov R.V., Kurbatov D.G. The recommendations on diagnostics and treatment of male hypogonadism (deficit of testosterone). The project. Problems of Endocrinology. 2015;61(5):60-71. doi: 10.14341/probl201561560-71

Mutations in the Type II 3β-Hydroxysteroid Dehydrogenase (HSD3B2) Gene Can Cause Premature Pubarche in Girls

2000 ◽  
Vol 55 (8) ◽  
pp. 493-494
Author(s):  
S. Marui ◽  
M. Castro ◽  
A. C. Latronico ◽  
L. L. K. Elias ◽  
I. J. P. Arnhold ◽  
...  
Keyword(s):  
Hydroxysteroid Dehydrogenase ◽  
Type Ii ◽  
Premature Pubarche
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