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  1. Article ; Online: Considerations of sex as a binary variable in clinical algorithms.

    Mohottige, Dinushika / Farouk, Samira / Poteat, Tonia / Radix, Asa / Witchel, Selma Feldman

    Nature reviews. Nephrology

    2024  

    Language English
    Publishing date 2024-04-23
    Publishing country England
    Document type Journal Article
    ZDB-ID 2490366-8
    ISSN 1759-507X ; 1759-5061
    ISSN (online) 1759-507X
    ISSN 1759-5061
    DOI 10.1038/s41581-024-00840-2
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  2. Article ; Online: Newborn screening for congenital adrenal hyperplasia: beyond 17-hydroxyprogesterone concentrations.

    Witchel, Selma Feldman

    Jornal de pediatria

    2018  Volume 95, Issue 3, Page(s) 257–259

    MeSH term(s) 17-alpha-Hydroxyprogesterone ; Adrenal Hyperplasia, Congenital ; Humans ; Infant, Newborn ; Mass Screening ; Neonatal Screening
    Chemical Substances 17-alpha-Hydroxyprogesterone (68-96-2)
    Language English
    Publishing date 2018-06-28
    Publishing country Brazil
    Document type Journal Article ; Comment
    ZDB-ID 731324-x
    ISSN 1678-4782 ; 0021-7557
    ISSN (online) 1678-4782
    ISSN 0021-7557
    DOI 10.1016/j.jped.2018.06.003
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  3. Article: Neurobiology of puberty and its disorders.

    Witchel, Selma Feldman / Plant, Tony M

    Handbook of clinical neurology

    2021  Volume 181, Page(s) 463–496

    Abstract: Puberty, which in humans is considered to include both gonadarche and adrenarche, is the period of becoming capable of reproducing sexually and is recognized by maturation of the gonads and development of secondary sex characteristics. Gonadarche ... ...

    Abstract Puberty, which in humans is considered to include both gonadarche and adrenarche, is the period of becoming capable of reproducing sexually and is recognized by maturation of the gonads and development of secondary sex characteristics. Gonadarche referring to growth and maturation of the gonads is fundamental to puberty since it encompasses increased gonadal steroid secretion and initiation of gametogenesis resulting from enhanced pituitary gonadotropin secretion, triggered in turn by robust pulsatile GnRH release from the hypothalamus. This chapter reviews the development of GnRH pulsatility from before birth until the onset of puberty. In humans, GnRH pulse generation is restrained during childhood and juvenile development. This prepubertal hiatus in hypothalamic activity is considered to result from a neurobiological brake imposed upon the GnRH pulse generator resident in the infundibular nucleus. Reactivation of the GnRH pulse generator initiates pubertal development. Current understanding of the genetics and physiology of the brake will be discussed, as will hypotheses proposed to account for timing the resurgence in pulsatile GnRH and initiation of puberty. The chapter ends with a discussion of disorders associated with precocious or delayed puberty with a focus on those with etiologies attributed to aberrant GnRH neuron anatomy or function. A pediatric approach to patients with pubertal disorders is provided and contemporary treatments for both precocious and delayed puberty outlined.
    MeSH term(s) Child ; Gonadotropin-Releasing Hormone/metabolism ; Humans ; Hypothalamus/metabolism ; Neurobiology ; Neurons/metabolism ; Puberty
    Chemical Substances Gonadotropin-Releasing Hormone (33515-09-2)
    Language English
    Publishing date 2021-07-08
    Publishing country Netherlands
    Document type Journal Article ; Review
    ISSN 0072-9752
    ISSN 0072-9752
    DOI 10.1016/B978-0-12-820683-6.00033-6
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  4. Article ; Online: Disorders of Puberty: Take a Good History!

    Witchel, Selma Feldman

    The Journal of clinical endocrinology and metabolism

    2016  Volume 101, Issue 7, Page(s) 2643–2646

    Language English
    Publishing date 2016-07
    Publishing country United States
    Document type Journal Article
    ZDB-ID 3029-6
    ISSN 1945-7197 ; 0021-972X
    ISSN (online) 1945-7197
    ISSN 0021-972X
    DOI 10.1210/jc.2016-2116
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  5. Article ; Online: Congenital Adrenal Hyperplasia.

    Witchel, Selma Feldman

    Journal of pediatric and adolescent gynecology

    2017  Volume 30, Issue 5, Page(s) 520–534

    Abstract: The congenital adrenal hyperplasias comprise a family of autosomal recessive disorders that disrupt adrenal steroidogenesis. The most common form is due to 21-hydroxylase deficiency associated with mutations in the 21-hydroxylase gene, which is located ... ...

    Abstract The congenital adrenal hyperplasias comprise a family of autosomal recessive disorders that disrupt adrenal steroidogenesis. The most common form is due to 21-hydroxylase deficiency associated with mutations in the 21-hydroxylase gene, which is located at chromosome 6p21. The clinical features associated with each disorder of adrenal steroidogenesis represent a clinical spectrum that reflect the consequences of the specific mutations. Treatment goals include normal linear growth velocity and "on-time" puberty in affected children. For adolescent and adult women, treatment goals include regularization of menses, prevention of progression of hirsutism, and preservation of fertility. For adolescent and adult men, prevention and early treatment of testicular adrenal rest tumors is beneficial. In this article key aspects regarding pathophysiology, diagnosis, and treatment of congenital adrenal hyperplasia are reviewed.
    MeSH term(s) Adolescent ; Adrenal Hyperplasia, Congenital/diagnosis ; Adrenal Hyperplasia, Congenital/genetics ; Adrenal Hyperplasia, Congenital/therapy ; Adult ; Child ; Female ; Fertility ; Hirsutism ; Humans ; Male ; Mutation ; Sexual Maturation ; Steroid 21-Hydroxylase/genetics
    Chemical Substances CYP21A2 protein, human (EC 1.14.14.16) ; Steroid 21-Hydroxylase (EC 1.14.14.16)
    Language English
    Publishing date 2017-04-24
    Publishing country United States
    Document type Journal Article ; Review
    ZDB-ID 1325079-6
    ISSN 1873-4332 ; 1083-3188
    ISSN (online) 1873-4332
    ISSN 1083-3188
    DOI 10.1016/j.jpag.2017.04.001
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  6. Article ; Online: Disorders of sex development.

    Witchel, Selma Feldman

    Best practice & research. Clinical obstetrics & gynaecology

    2017  Volume 48, Page(s) 90–102

    Abstract: Normal sex development depends on the precise spatio-temporal sequence and coordination of mutually antagonistic activating and repressing factors. These factors regulate the commitment of the unipotential gonad into the binary pathways governing normal ... ...

    Abstract Normal sex development depends on the precise spatio-temporal sequence and coordination of mutually antagonistic activating and repressing factors. These factors regulate the commitment of the unipotential gonad into the binary pathways governing normal sex development. Typically, the presence of the SRY gene on the Y chromosome triggers the cascade of molecular events that lead to male sex development. Disorders of sex development comprise a heterogeneous group of congenital conditions associated with atypical development of internal and external genitalia. These disorders are generally attributed to deviations from the typical progression of sex development. Disorders of sex development can be classified into several categories including chromosomal, gonadal, and anatomic abnormalities. Genetic tools such as microarray analyses and next-generation sequencing techniques have identified novel genetic variants among patients with disorders of sexual development. Most importantly, patient management needs to be individualized, especially for decisions related to sex of rearing, surgical interventions, hormone treatment, and potential for fertility preservation.
    MeSH term(s) Child ; Disease Management ; Disorders of Sex Development/diagnosis ; Disorders of Sex Development/genetics ; Female ; Humans ; Male
    Language English
    Publishing date 2017-11-22
    Publishing country Netherlands
    Document type Journal Article ; Review
    ZDB-ID 2050090-7
    ISSN 1532-1932 ; 1521-6934
    ISSN (online) 1532-1932
    ISSN 1521-6934
    DOI 10.1016/j.bpobgyn.2017.11.005
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  7. Article ; Online: Intertwined reproductive endocrinology: Puberty and polycystic ovary syndrome.

    Witchel, Selma Feldman / Plant, Tony M

    Current opinion in endocrine and metabolic research

    2020  Volume 14, Page(s) 127–136

    Abstract: Polycystic ovary syndrome (PCOS) is a heterogeneous familial disorder often emerging during the peri-pubertal years concomitantly with the onset of gonadarche and adrenarche. Both gonadarche and PCOS reflect functional changes in the hypothalamic- ... ...

    Abstract Polycystic ovary syndrome (PCOS) is a heterogeneous familial disorder often emerging during the peri-pubertal years concomitantly with the onset of gonadarche and adrenarche. Both gonadarche and PCOS reflect functional changes in the hypothalamic-pituitary-ovarian axis. During this transition, normal girls manifest features consistent with PCOS such as irregular menses, mild hyperandrogenism, and multi-follicular ovary morphology. Themes common to puberty and PCOS, neuroendocrine features, androgen exposure, and insulin sensitivity, will be considered to address the possibility that PCOS interferes with the normal pubertal transition.
    Language English
    Publishing date 2020-07-16
    Publishing country England
    Document type Journal Article
    ISSN 2451-9650
    ISSN (online) 2451-9650
    DOI 10.1016/j.coemr.2020.07.004
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  8. Article ; Online: Genetics, Genome-Wide Association Studies, and Menarche.

    Witchel, Selma Feldman

    Seminars in reproductive medicine

    2016  Volume 34, Issue 4, Page(s) 205–214

    Abstract: Puberty is characterized by maturation of the hypothalamic-pituitary-gonadal axis, development of secondary sexual features, increased linear growth velocity, maturation of the epiphyses limiting additional growth, and achievement of menarche. The age at ...

    Abstract Puberty is characterized by maturation of the hypothalamic-pituitary-gonadal axis, development of secondary sexual features, increased linear growth velocity, maturation of the epiphyses limiting additional growth, and achievement of menarche. The age at menarche appears to have a significant genetic component. With the advent of genome-wide association studies (GWASs), the genome has been interrogated to find associations between specific loci and age at menarche. It is apparent that multiple genetic loci, epigenetic mechanisms, and environmental factors modulate this biological event crucial for reproductive competence.
    MeSH term(s) Adolescent ; Age Factors ; Body Mass Index ; Child ; Epigenomics ; Female ; Genetic Loci ; Genome-Wide Association Study ; Gonadotropin-Releasing Hormone/metabolism ; Humans ; Menarche/genetics ; Menarche/physiology ; Menstrual Cycle ; Mutation
    Chemical Substances Gonadotropin-Releasing Hormone (33515-09-2)
    Language English
    Publishing date 2016-07
    Publishing country United States
    Document type Journal Article ; Review
    ZDB-ID 2042479-6
    ISSN 1526-4564 ; 1526-8004
    ISSN (online) 1526-4564
    ISSN 1526-8004
    DOI 10.1055/s-0036-1585405
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  9. Article ; Online: Anti-obesity pharmacological agents for polycystic ovary syndrome: A systematic review and meta-analysis to inform the 2023 international evidence-based guideline.

    Goldberg, Alyse / Graca, Sandro / Liu, Jing / Rao, Vibhuti / Witchel, Selma Feldman / Pena, Alexia / Li, Rong / Mousa, Aya / Tay, Chau Thien / Pattuwage, Loyal / Teede, Helena / Yildiz, Bulent O / Ee, Carolyn

    Obesity reviews : an official journal of the International Association for the Study of Obesity

    2024  Volume 25, Issue 5, Page(s) e13704

    Abstract: This systematic review and meta-analysis evaluated the efficacy of anti-obesity agents for hormonal, reproductive, metabolic, and psychological outcomes in polycystic ovary syndrome (PCOS) to inform the 2023 update of the International Evidence-based ... ...

    Abstract This systematic review and meta-analysis evaluated the efficacy of anti-obesity agents for hormonal, reproductive, metabolic, and psychological outcomes in polycystic ovary syndrome (PCOS) to inform the 2023 update of the International Evidence-based Guideline on PCOS. We searched Medline, EMBASE, PsycInfo, and CINAHL until July 2022 with a 10-year limit to focus on newer agents. Eleven trials (545 and 451 participants in intervention and control arms respectively, 12 comparisons) were included. On descriptive analyses, most agents improved anthropometric outcomes; liraglutide, semaglutide and orlistat appeared superior to placebo for anthropometric outcomes. Meta-analyses were possible for two comparisons (exenatide vs. metformin and orlistat + combined oral contraceptive pill [COCP] vs. COCP alone). On meta-analysis, no differences were identified between exenatide versus metformin for anthropometric, biochemical hyperandrogenism, and metabolic outcomes, other than lower fasting blood glucose more with metformin than exenatide (MD: 0.10 mmol/L, CI 0.02-0.17, I
    MeSH term(s) Female ; Humans ; Polycystic Ovary Syndrome/drug therapy ; Anti-Obesity Agents/therapeutic use ; Contraceptives, Oral, Combined/therapeutic use ; Orlistat/therapeutic use ; Exenatide/therapeutic use ; Metformin/therapeutic use ; Hypoglycemic Agents/therapeutic use
    Chemical Substances Anti-Obesity Agents ; Contraceptives, Oral, Combined ; Orlistat (95M8R751W8) ; Exenatide (9P1872D4OL) ; Metformin (9100L32L2N) ; Hypoglycemic Agents
    Language English
    Publishing date 2024-02-14
    Publishing country England
    Document type Meta-Analysis ; Systematic Review ; Journal Article ; Review
    ZDB-ID 2147980-X
    ISSN 1467-789X ; 1467-7881
    ISSN (online) 1467-789X
    ISSN 1467-7881
    DOI 10.1111/obr.13704
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  10. Article ; Online: Non-classic congenital adrenal hyperplasia.

    Witchel, Selma Feldman

    Steroids

    2013  Volume 78, Issue 8, Page(s) 747–750

    Abstract: Non-classic or late-onset congenital adrenal hyperplasia (NCAH) due to 21-hydroxylase deficiency is one of the most common autosomal recessive disorders. Reported prevalence is approximately 1 in 1000. Affected individuals typically present due to signs ... ...

    Abstract Non-classic or late-onset congenital adrenal hyperplasia (NCAH) due to 21-hydroxylase deficiency is one of the most common autosomal recessive disorders. Reported prevalence is approximately 1 in 1000. Affected individuals typically present due to signs and symptoms of androgen excess. The purpose of this review is to provide current information regarding the pathophysiology, molecular genetics, and management of this common disorder. The treatment of NCAH needs to be directed towards the symptoms. For affected children, goals of treatment include normal linear growth velocity, normal rate of skeletal maturation, "on-time" puberty. For affected adolescent and adult women, goals of treatment include regular menstrual cycles, prevention or progression of hirsutism and acne, and fertility. Treatment needs to be individualized and should not be initiated merely to decrease abnormally elevated hormone concentrations.
    MeSH term(s) Adolescent ; Adrenal Hyperplasia, Congenital/diagnosis ; Adrenal Hyperplasia, Congenital/drug therapy ; Adrenal Hyperplasia, Congenital/physiopathology ; Adult ; Child ; Female ; Fertility/drug effects ; Fertility/physiology ; Humans ; Hydrocortisone/therapeutic use ; Male ; Sexual Maturation/physiology
    Chemical Substances Hydrocortisone (WI4X0X7BPJ)
    Language English
    Publishing date 2013-08
    Publishing country United States
    Document type Journal Article ; Review
    ZDB-ID 80312-1
    ISSN 1878-5867 ; 0039-128X
    ISSN (online) 1878-5867
    ISSN 0039-128X
    DOI 10.1016/j.steroids.2013.04.010
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