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Indian Journal of Dermatology,... 2018Hair disorders are common in clinical practice and depending upon social and ethnic norms, it can cause significant psychosocial distress. Hair growth, cycling and... (Review)
Review
Hair disorders are common in clinical practice and depending upon social and ethnic norms, it can cause significant psychosocial distress. Hair growth, cycling and density are regulated by many endogenous factors, mainly circulating hormones. Thus, diseases affecting the endocrine system can cause varied changes in physiological hair growth and cycling. Diagnosis and treatment of these disorders require a multidisciplinary approach involving a dermatologist, gynecologist and an endocrinologist. In this review, we briefly discuss the influence of hormones on the hair cycle and hair changes in various endocrine disorders.
Topics: Alopecia; Endocrine System Diseases; Female; Hair Diseases; Hirsutism; Humans; Hypertrichosis; Male
PubMed: 30027913
DOI: 10.4103/ijdvl.IJDVL_671_17 -
European Journal of Human Genetics :... Oct 2011Hydatidiform mole (HM) is an abnormal human pregnancy, where the placenta presents with vesicular swelling of the chorionic villi. A fetus is either not present, or...
Hydatidiform mole (HM) is an abnormal human pregnancy, where the placenta presents with vesicular swelling of the chorionic villi. A fetus is either not present, or malformed and not viable. Most moles are diploid androgenetic as if one spermatozoon fertilized an empty oocyte, or triploid with one maternal and two paternal chromosome sets as if two spermatozoa fertilized a normal oocyte. However, diploid moles with both paternal and maternal markers of the nuclear genome have been reported. Among 162 consecutively collected diploid moles, we have earlier found indications of both maternal and paternal genomes in 11. In the present study, we have performed detailed analysis of DNA-markers in tissue and single cells from these 11 HMs. In 3/11, we identified one biparental cell population only, whereas in 8/11, we demonstrated mosaicism: one biparental cell population and one androgenetic cell population. One mosaic mole was followed by persistent trophoblastic disease (PTD). In seven of the mosaics, one spermatozoon appeared to have contributed to the genomes of both cell types. Our observations make it likely that mosaic conceptuses, encompassing an androgenetic cell population, result from various postzygotic abnormalities, including paternal pronuclear duplication, asymmetric cytokinesis, and postzygotic diploidization. This corroborates the suggestion that fertilization of an empty egg is not mandatory for the creation of an androgenetic cell population. Future studies of mosaic conceptuses may disclose details about fertilization, early cell divisions and differentiation. Apparently, only a minority of diploid moles with both paternal and maternal markers are 'genuine' diploid biparental moles (DiBiparHMs).
Topics: Diploidy; Female; Genomic Imprinting; Gestational Age; Gestational Trophoblastic Disease; Humans; Hydatidiform Mole; Male; Microsatellite Repeats; Mosaicism; Pregnancy; Trophoblastic Neoplasms; Uterine Neoplasms; Virilism
PubMed: 21654731
DOI: 10.1038/ejhg.2011.93 -
Journal of Clinical Research in... Mar 2017Congenital adrenal hyperplasia (CAH) is classified as classical CAH and non-classical CAH (NCCAH). In the classical type, the most severe form comprises both... (Review)
Review
Congenital adrenal hyperplasia (CAH) is classified as classical CAH and non-classical CAH (NCCAH). In the classical type, the most severe form comprises both salt-wasting and simple virilizing forms. In the non-classical form, diagnosis can be more confusing because the patient may remain asymptomatic or the condition may be associated with signs of androgen excess in the postnatal period or in the later stages of life. This review paper will include information on clinical findings, symptoms, diagnostic approaches, and treatment modules of NCCAH.
Topics: Adrenal Hyperplasia, Congenital; Child; Diagnosis, Differential; Female; Genetic Testing; Humans; Male; Mutation; Steroid 21-Hydroxylase; Virilism
PubMed: 27354284
DOI: 10.4274/jcrpe.3378 -
British Medical Journal (Clinical... Aug 1986
Topics: Female; Hair Diseases; Hair Removal; Hirsutism; Humans
PubMed: 3089517
DOI: 10.1136/bmj.293.6543.348-a -
The Journal of Clinical Endocrinology... Apr 2021Virilization is the medical term for describing a female who develops characteristics associated with male hormones (androgens) at any age, or when a newborn girl shows... (Review)
Review
UNLABELLED
Virilization is the medical term for describing a female who develops characteristics associated with male hormones (androgens) at any age, or when a newborn girl shows signs of prenatal male hormone exposure at birth. In girls, androgen levels are low during pregnancy and childhood. A first physiologic rise of adrenal androgens is observed at the age of 6 to 8 years and reflects functional activation of the zona reticularis of the adrenal cortex at adrenarche, manifesting clinically with first pubic and axillary hairs. Early adrenarche is known as "premature adrenarche." It is mostly idiopathic and of uncertain pathologic relevance but requires the exclusion of other causes of androgen excess (eg, nonclassic congenital adrenal hyperplasia) that might exacerbate clinically into virilization. The second modest physiologic increase of circulating androgens occurs then during pubertal development, which reflects the activation of ovarian steroidogenesis contributing to the peripheral androgen pool. However, at puberty initiation (and beyond), ovarian steroidogenesis is normally devoted to estrogen production for the development of secondary female bodily characteristics (eg, breast development). Serum total testosterone in a young adult woman is therefore about 10- to 20-fold lower than in a young man, whereas midcycle estradiol is about 10- to 20-fold higher. But if androgen production starts too early, progresses rapidly, and in marked excess (usually more than 3 to 5 times above normal), females will manifest with signs of virilization such as masculine habitus, deepening of the voice, severe acne, excessive facial and (male typical) body hair, clitoromegaly, and increased muscle development. Several medical conditions may cause virilization in girls and women, including androgen-producing tumors of the ovaries or adrenal cortex, (non)classical congenital adrenal hyperplasia and, more rarely, other disorders (also referred to as differences) of sex development (DSD). The purpose of this article is to describe the clinical approach to the girl with virilization at puberty, focusing on diagnostic challenges. The review is written from the perspective of the case of an 11.5-year-old girl who was referred to our clinic for progressive, rapid onset clitoromegaly, and was then diagnosed with a complex genetic form of DSD that led to abnormal testosterone production from a dysgenetic gonad at onset of puberty. Her genetic workup revealed a unique translocation of an abnormal duplicated Y-chromosome to a deleted chromosome 9, including the Doublesex and Mab-3 Related Transcription factor 1 (DMRT1) gene.
LEARNING OBJECTIVES
Identify the precise pathophysiologic mechanisms leading to virilization in girls at puberty considering that virilization at puberty may be the first manifestation of an endocrine active tumor or a disorder/difference of sex development (DSD) that remained undiagnosed before and may be life-threatening. Of the DSDs, nonclassical congenital adrenal hyperplasia occurs most often.Provide a step-by-step diagnostic workup plan including repeated and expanded biochemical and genetic tests to solve complex cases.Manage clinical care of a girl virilizing at puberty using an interdisciplinary team approach.Care for complex cases of DSD manifesting at puberty, such as the presented girl with a Turner syndrome-like phenotype and virilization resulting from a complex genetic variation.
Topics: Adrenal Hyperplasia, Congenital; Adrenarche; Androgens; Child; Female; Humans; Puberty; Virilism
PubMed: 33367768
DOI: 10.1210/clinem/dgaa948 -
Indian Journal of Dermatology,... 2022
Topics: Autoantibodies; Hirsutism; Humans; Hypertrichosis; Paraneoplastic Syndromes
PubMed: 33871203
DOI: 10.25259/IJDVL_448_20 -
International Journal of Molecular... Dec 2022Androgens such as testosterone and dihydrotestosterone (DHT) are essential for male sexual development, masculinisation, and fertility. Testosterone is produced via the... (Review)
Review
Androgens such as testosterone and dihydrotestosterone (DHT) are essential for male sexual development, masculinisation, and fertility. Testosterone is produced via the canonical androgen production pathway and is essential for normal masculinisation and testis function. Disruption to androgen production can result in disorders of sexual development (DSD). In the canonical pathway, 17β-hydroxysteroid dehydrogenase type 3 (HSD17B3) is viewed as a critical enzyme in the production of testosterone, performing the final conversion required. HSD17B3 deficiency in humans is associated with DSD due to low testosterone concentration during development. Individuals with mutations have poorly masculinised external genitalia that can appear as ambiguous or female, whilst having internal Wolffian structures and testes. Recent studies in mice deficient in HSD17B3 have made the surprising finding that testosterone production is maintained, male mice are masculinised and remain fertile, suggesting differences between mice and human testosterone production exist. We discuss the phenotypic differences observed and the possible other pathways and enzymes that could be contributing to testosterone production and male development. The identification of alternative testosterone synthesising enzymes could inform the development of novel therapies to endogenously regulate testosterone production in individuals with testosterone deficiency.
Topics: Humans; Male; Female; Mice; Animals; Testosterone; Androgens; Virilism; Mutation; Dihydrotestosterone; 17-Hydroxysteroid Dehydrogenases
PubMed: 36555196
DOI: 10.3390/ijms232415555 -
Skin Therapy Letter Sep 2009Hirsutism is a relatively common condition affecting about 5%-O10% of women of childbearing age. Herein, we present an overview of hirsutism with emphasis on its... (Review)
Review
Hirsutism is a relatively common condition affecting about 5%-O10% of women of childbearing age. Herein, we present an overview of hirsutism with emphasis on its etiology and therapeutic options.
Topics: Androgen Antagonists; Contraceptives, Oral; Female; Glucocorticoids; Gonadotropin-Releasing Hormone; Hair Removal; Hirsutism; Humans; Polycystic Ovary Syndrome; Risk Factors
PubMed: 20039595
DOI: No ID Found -
Hormone Research 2009cP450aromatase deficiency provides clues for the understanding of the role of aromatase in prepubertal and pubertal human health and disease. Placental aromatization of... (Review)
Review
INTRODUCTION
cP450aromatase deficiency provides clues for the understanding of the role of aromatase in prepubertal and pubertal human health and disease. Placental aromatization of androgens protects the female fetus against the virilizing action of fetal androgens. After birth, the dual effect of aromatase deficiency, excessive androgens, and insufficient estrogens is responsible for a variable clinical picture. Nineteen cases of aromatase gene (CYP19) deficiency have been reported.
PHENOTYPE
Phenotype is dependent on sex and age. In newborns, aromatase deficiency should be considered in the etiology of 46,XX DSD, after ruling out congenital adrenal hyperplasia. In prepubertal aromatase deficient girls, high levels of ovarian androgens and gonadotropins facilitate the formation of ovarian cysts. Bone mineralization can be affected and bone aging is delayed. In pubertal girls, there is poor sexual development and abnormal virilization. The phenotype may be variable according to enzyme activity level. Insulin sensitivity may be abnormal in both men and women. Finally, aromatase might also play a role in the regulation of testicular cell mass in the newborn testis.
CONCLUSION
Adequate interpretation of clinical data should lead to the analysis of the CYP19 gene for diagnostic confirmation and implementation of appropriate management.
Topics: Adolescent; Androgens; Aromatase; Bone Development; Child; Female; Genitalia; Humans; Hypothalamo-Hypophyseal System; Infant; Infant, Newborn; Insulin Resistance; Lipids; Male; Models, Biological; Mutation; Phenotype; Pregnancy; Puberty
PubMed: 19844120
DOI: 10.1159/000249159 -
BMC Endocrine Disorders Nov 2022Ovarian steroid cell tumors (SCTs), not otherwise specified (NOS), are rare, with few large studies. The purpose of this study was to analyze the clinical features,... (Review)
Review
BACKGROUND
Ovarian steroid cell tumors (SCTs), not otherwise specified (NOS), are rare, with few large studies. The purpose of this study was to analyze the clinical features, prognosis, and treatment choices for these patients of different age groups.
METHODS
This was a retrospective study. We identified nine cases of ovarian steroid cell tumor, not otherwise specified, confirmed by post-operative histopathological examination, and analyzed clinical features, surgical procedures, and follow up outcomes. We also reviewed cases reports of ovarian steroid cell tumors, not otherwise specified.
RESULTS
A total of nine cases were included. The age range was 9-68 years (mean, 41.89 ± 19.72 years). Clinical features included virilization, amenorrhea, abdominal pain, vaginal bleeding, isosexual precocious puberty, Cushing's syndrome, and abnormal weight gain with elevated testosterone levels. The follow up interval ranged 5-53 months and no recurrence was observed.
CONCLUSION
Ovarian steroid cell tumors covered all age groups, with manifestations of androgen excess. Younger patients appeared to have a more favorable prognosis, which provided more opportunities for these patients to pursue treatment options that will preserve reproductive function.
Topics: Female; Humans; Child; Adolescent; Young Adult; Adult; Middle Aged; Aged; Retrospective Studies; Sex Cord-Gonadal Stromal Tumors; Ovarian Neoplasms; Virilism; Steroids
PubMed: 36316664
DOI: 10.1186/s12902-022-01170-9