scholarly journals Acne Syndromes and Mosaicism

Biomedicines ◽  
2021 ◽  
Vol 9 (11) ◽  
pp. 1735
Author(s):  
Sumer Baroud ◽  
Jim Wu ◽  
Christos C. Zouboulis
Keyword(s):  
Polycystic Ovarian Syndrome ◽  
Somatic Mosaicism ◽  
Apert Syndrome ◽  
Adrenal Hyperplasia ◽  
Inflammatory Signaling ◽  
Autoinflammatory Syndromes ◽  
Fgfr2 Gene ◽  
Cutaneous Mosaicism ◽  
Inflammatory Changes ◽  
Ovarian Syndrome

Abnormal mosaicism is the coexistence of cells with at least two genotypes, by the time of birth, in an individual derived from a single zygote, which leads to a disease phenotype. Somatic mosaicism can be further categorized into segmental mosaicism and nonsegmental somatic mosaicism. Acne is a chronic illness characterized by inflammatory changes around and in the pilosebaceous units, commonly due to hormone- and inflammatory signaling-mediated factors. Several systemic disorders, such as congenital adrenal hyperplasia, polycystic ovarian syndrome, and seborrhoea-acne-hirsutism-androgenetic alopecia syndrome have classically been associated with acne. Autoinflammatory syndromes, including PAPA, PASH, PAPASH, PsAPASH, PsaPSASH, PASS, and SAPHO syndromes include acneiform lesions as a key manifestation. Mosaic germline mutations in the FGFR2 gene have been associated with Apert syndrome and nevus comedonicus, two illnesses that are accompanied by acneiform lesions. In this review, we summarize the concept of cutaneous mosaicism and elaborate on acne syndromes, as well as acneiform mosaicism.

scholarly journals 11-Keto-testosterone and Other Androgens of Adrenal Origin

2020 ◽  
pp. S187-S192
Author(s):  
L. STÁRKA ◽  
M. DUŠKOVÁ ◽  
J. VÍTKŮ
Keyword(s):  
Prostate Cancer ◽  
Steroid Hormones ◽  
Polycystic Ovarian Syndrome ◽  
Adrenal Glands ◽  
Clinical Importance ◽  
Androgen Deprivation ◽  
Adrenal Hyperplasia ◽  
Androgenic Activity ◽  
Area Of Concern ◽  
Ovarian Syndrome

The adrenal glands produce significant amounts of steroid hormones and their metabolites, with various levels of androgenic activities. Until recently, the androgenic potency of these adrenal-derived compounds were not well known, but some recent studies have shown that the production of 11-oxo- and 11β-hydroxy-derived testosterone and dihydrotestosterone evidently have high androgenic activity. This fact has clinical importance, for instance, in various types of congenital adrenal hyperplasia with androgenization or polycystic ovarian syndrome, and laboratory determinations of these substances could help to better evaluate the total androgen pressure in patients with these disorders. Another area of concern is the treatment of prostate cancer with androgen deprivation, which loses effectiveness after a certain time. The concurrent blocking of the secretion of adrenal C19-steroids, whether using corticoids or adrenostatics, could increase the effectiveness of androgen-deprivation therapy.

Late-onset Congenital Adrenal Hyperplasia or Early-onset Polycystic Ovarian Syndrome: A Clinical Dilemma

2017 ◽  
Vol 9 (3) ◽  
pp. 280-282
Author(s):  
Anuja V Bhalerao ◽  
Preksha Jain ◽  
Sakshi Aggarwal
Keyword(s):  
Congenital Adrenal Hyperplasia ◽  
Early Onset ◽  
Social Impact ◽  
Polycystic Ovarian Syndrome ◽  
Late Onset ◽  
Adrenal Hyperplasia ◽  
Early Therapy ◽  
Facial Hair ◽  
Clinical Dilemma ◽  
Ovarian Syndrome

ABSTRACT Aim To differentiate nonclassical congenital adrenal hyperplasia (NCAH) from polycystic ovarian syndrome (PCOS) in a 13-year-old girl. Background Hirsutism and virilization are effects of hyperandrogenism by ovaries and adrenal glands. It has a marked psychological and social impact affecting the quality of life; 75% of premenarchal girl have hyperandrogenism, which is due to PCOS but late-onset congenital adrenal hyperplasia cannot be ruled out, and this leaves the clinician in quandary regarding the diagnosis and management. Case report A 13½-year-old girl presented with excessive facial hair, hoarseness of voice, and darkening of elbow pits since past 2 months, which was increasing in severity. The patient had not yet attained menarche but had pubarche 1 year back. Examination revealed presence of acanthosis, underdeveloped breasts, and clitoromegaly >3 cm. Levels of 17-hydroxyprogesterone were normal but higher levels were reported poststimulation. Fasting insulin levels were also high. Appropriate treatment was started, which led to improvement in patient's symptoms. Conclusion There is significant overlapping between PCOS and NCAH, which warrants accurate diagnosis based on hormonal analysis to institute early and appropriate therapy. Significance Early therapy can prevent infertility and androgenic complications later in life. How to cite this article Jain P, Bhalerao AV, Aggarwal S. Late-onset Congenital Adrenal Hyperplasia or Early-onset Polycystic Ovarian Syndrome: A Clinical Dilemma. J South Asian Feder Obst Gynae 2017;9(3):280-282.

scholarly journals Primary amenorrhoea and clitoromegaly in a nulliparous woman: successful medical and surgical management

2018 ◽  
pp. bcr-2018-226122
Author(s):  
Aruna Nigam ◽  
Arifa Anwar Elahi ◽  
Neha Varun ◽  
Nidhi Gupta
Keyword(s):  
Congenital Adrenal Hyperplasia ◽  
Married Woman ◽  
Polycystic Ovarian Syndrome ◽  
Anabolic Steroids ◽  
Primary Reason ◽  
Adrenal Hyperplasia ◽  
Androgen Excess ◽  
Primary Amenorrhoea ◽  
Important Sign ◽  
Ovarian Syndrome

Clitoromegaly is an important sign of virilisation and poses difficulty in sex determination, when present since birth. The diagnosis and treatment in an adult is a major challenge to the treating gynaecologist. The primary reason for its development is androgen excess due to congenital adrenal hyperplasia, polycystic ovarian syndrome, ovarian virilising tumours, neurofibromas, adrenal neoplasm and prolonged intake of anabolic steroids. A case of young nulliparous married woman who presented with primary amenorrhoea and clitoromegaly and was managed successfully has been reported.

Peripubertal ovarian cyst torsion as an early complication of undiagnosed polycystic ovarian syndrome

2013 ◽  
Vol 154 (3) ◽  
pp. 113-117 ◽  
Author(s):  
László Ságodi ◽  
Ildikó Schmidt ◽  
Ildikó Vámosi ◽  
László Barkai
Keyword(s):  
Ovarian Cyst ◽  
Polycystic Ovarian Syndrome ◽  
Late Onset ◽  
Pubertal Development ◽  
Cyst Formation ◽  
Early Complication ◽  
Adrenal Hyperplasia ◽  
Androgen Excess ◽  
Adequate Management ◽  
Ovarian Syndrome

The aim of the authors is to present two cases which raise the possibility of an association between polycystic ovarian syndrome/hyperandrogenism and ovarian cyst torsion in peripubertal girls. Androgen excess may cause more frequently ovarian cyst formation in premenarcheal or young adolescents with undiagnosed polycystic ovarian syndrome than in adults. The authors recommend that polycystic ovarian syndrome as wel as late onset congenital adrenal hyperplasia should be considered in peripubertal adolescents with ovarian cyst torsion. In case polycystic ovarian syndrome is confirmed, adequate management according to age and pubertal development of the patients should be commenced. Orv. Hetil., 2013, 154, 113–117.

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