Treatment of Congenital Adrenal Hyperplasia by ReducingInsulin Resistance and Cysticercosis Induced Polycystic 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.

Download Full-text

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

BMJ Case Reports ◽

10.1136/bcr-2018-226122 ◽

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.

Download Full-text

Vitamin D and Insulin Resistance in Polycystic Ovarian Syndrome and Congenital Adrenal Hyperplasia-a Commentary and Natural Expansion

10.33696/diabetes.3.033 ◽

2021 ◽

Vol 3 (1) ◽

Keyword(s):

Insulin Resistance ◽

Vitamin D ◽

Congenital Adrenal Hyperplasia ◽

Polycystic Ovarian Syndrome ◽

Adrenal Hyperplasia ◽

Natural Expansion ◽

Ovarian Syndrome

Download Full-text

Use of Successive Pharmacologic Hormone Suppression Testing for a Severe Presentation of Adolescent Polycystic Ovarian Syndrome: A Case Report

Journal of Investigative Medicine High Impact Case Reports ◽

10.1177/2324709619850215 ◽

2019 ◽

Vol 7 ◽

pp. 232470961985021

Author(s):

Sonalee Jaya Ravi ◽

Melanie Cree-Green

Keyword(s):

Congenital Adrenal Hyperplasia ◽

Polycystic Ovarian Syndrome ◽

Correct Diagnosis ◽

Accurate Diagnosis ◽

Adrenal Hyperplasia ◽

Acth Stimulation ◽

Full Sequence ◽

Adrenal Imaging ◽

Ovarian Syndrome ◽

Rule Out

Background. Pathological causes of acne and hirsutism include polycystic ovarian syndrome (PCOS), congenital adrenal hyperplasia, and adrenal or ovarian tumors. PCOS is largely a clinical diagnosis and often simple laboratory testing can rule out more severe pathology. In more severe cases, determination of the correct diagnosis can require hormone suppression testing. In this article, we present a full sequence of hormone suppression testing and workup necessary to arrive at the ultimate diagnosis. Case Presentation. A 12-year-old normal weight (body mass index = 29th percentile), premenarchal female with Tanner III breast, Tanner V pubic hair presented with a 2.5-year history of severe hirsutism (Ferriman-Gallwey Score of 22), clitoromegaly, and deep voice. Successive hormone suppression and testing (ACTH stimulation testing, ovarian and adrenal imaging, dexamethasone-suppressed ACTH stimulation testing, and oral contraceptive therapy) was necessary to rule out congenital adrenal hyperplasia or a tumor and confirm PCOS. Metabolic testing, completed only after diagnosing PCOS, demonstrated insulin resistance. Conclusions. This patient had an extreme presentation of a common disorder. Her premenarchal status, elevated androgens, and virilization raised concern for non-PCOS pathology requiring sequential pharmacological hormone suppression testing and imaging for accurate diagnosis and appropriate treatment. The testing presented here is not novel, but we present the full sequence of testing and clinical results. This full sequence is rarely necessary for accurate diagnosis given clinical presentation and initial evaluation and, therefore, to our knowledge, has not been published. All providers caring for patients with PCOS should be familiar with this testing and its interpretation for severe cases that warrant extra attention.

Download Full-text

Sertoli Leydig Cell Tumour Initially Misdiagnosed as Polycystic Ovarian Syndrome and Congenital Adrenal Hyperplasia: A Case Report

Journal of Nepal Medical Association ◽

10.31729/jnma.5045 ◽

2020 ◽

Vol 58 (231) ◽

Author(s):

Pooja Paudyal ◽

Geeta Gurung ◽

Josie Baral ◽

Nisha Kharel

Keyword(s):

Congenital Adrenal Hyperplasia ◽

Leydig Cell ◽

Polycystic Ovarian Syndrome ◽

Serum Testosterone ◽

Leydig Cell Tumor ◽

Cell Tumor ◽

Adrenal Hyperplasia ◽

Testosterone Levels ◽

Fertility Sparing ◽

Ovarian Syndrome

Sertoli-Leydig cell tumor of the ovary is an unusual neoplasm that belongs to a group of sex cord-stromal tumors of the ovary and accounts for less than 0.5% of all primary ovarian neoplasms. They are often characterized by the presence of mass with androgen production and signs of virilization. Due to the substantially low incidence of Sertoli-Leydig cell tumors, information on clinical behavior, prognostic factors, and optimal management arelimited. Here in, we report a case of aprimary ovarian Sertoli-Leydig cell tumor in a 21-year-old student, previously diagnosed to have polycystic ovarian syndrome and subsequently congenital adrenal hyperplasia, who presented with a large abdominal mass and features of virilization along with elevated serum testosterone levels. Fertility sparing unilateral salpingo-oophorectomy was done and adjuvant chemotherapy was given after histopathology showed moderate to poorly differentiated Sertoli-Leydig cell tumor. Following surgery, her features of hyperandrogenism resolved and serum testosterone levels returned to normal.

Download Full-text

Acne Syndromes and Mosaicism

Biomedicines ◽

10.3390/biomedicines9111735 ◽

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.

Download Full-text