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

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.

scholarly journals Prevalence of Nonclassic Congenital Adrenal Hyperplasia in Turkish Children Presenting with Premature Pubarche, Hirsutism, or Oligomenorrhoea

2014 ◽  
Vol 2014 ◽  
pp. 1-7 ◽  
Author(s):  
Cigdem Binay ◽  
Enver Simsek ◽  
Oguz Cilingir ◽  
Zafer Yuksel ◽  
Ozden Kutlay ◽  
...  
Keyword(s):  
Congenital Adrenal Hyperplasia ◽  
Mutational Analysis ◽  
Autosomal Recessive Disorder ◽  
Adrenal Hyperplasia ◽  
Acth Stimulation ◽  
Gene Encoding ◽  
Turkish Children ◽  
17 Hydroxyprogesterone ◽  
Ovarian Syndrome ◽  
Premature Pubarche

Background. Nonclassic congenital adrenal hyperplasia (NCAH), caused by mutations in the gene encoding 21-hydroxylase, is a common autosomal recessive disorder. In the present work, our aim was to determine the prevalence of NCAH presenting as premature pubarche (PP), hirsutism, or polycystic ovarian syndrome (PCOS) and to evaluate the molecular spectrum ofCYP21A2mutations in NCAH patients.Methods. A total of 126 patients (122 females, 4 males) with PP, hirsutism, or PCOS were included in the present study. All patients underwent an ACTH stimulation test. NCAH was considered to be present when the stimulated 17-hydroxyprogesterone plasma level was >10 ng/mL.Results. Seventy-one of the 126 patients (56%) presented with PP, 29 (23%) with PCOS, and 26 (21%) with hirsutism. Six patients (4,7%) were diagnosed with NCAH based on mutational analysis. Four different mutations (Q318X, P30L, V281L, and P453S) were found in six NCAH patients. One patient with NCAH was a compound heterozygote for this mutation, and five were heterozygous.Conclusion. NCAH should be considered as a differential diagnosis in patients presenting with PP, hirsutism, and PCOS, especially in countries in which consanguineous marriages are prevalent.

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.

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

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.

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