Annals of African Medicine
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Year : 2013  |  Volume : 12  |  Issue : 3  |  Page : 182-184  

Familial trend in polycystic ovarian syndrome: Report of two cases

1 Department of Community Medicine, Anambra State University, Awka; Fertility Unit of Life Specialist Hospital, Nnewi, Nigeria
2 Department of Obstetrics/Gynaecology, Nnamdi Azikiwe University Teaching Hospital, Nnewi, Nigeria
3 Fertility Unit of Life Specialist Hospital, Nnewi, Nigeria

Date of Web Publication5-Sep-2013

Correspondence Address:
J I Ikechebelu
Fertility Unit of Life Specialist Hospital, P.O.Box 244, Nnewi, Anambra State
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/1596-3519.117630

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Polycystic ovarian syndrome (PCOS) is an endocrine disorder with a strong genetic component. The affected females present with anovulatory cycles, a spectrum of menstrual disorders, and features of androgen excess.
We present the case of two sisters who were diagnosed with PCOS and have a family history of oligomenorrhoea in their grandmother and PCOS in their mother and sisters. They also have a family history of hypertension, diabetes mellitus, and breast mass which are known co-morbidities associated with PCOS. Both were managed successfully with ovulation induction using clomiphene citrate. PCOS could be familial as in our patients and further research is required to define the exact genetic pattern of inheritance.

   Abstract in French 

Le syndrome des ovaires polykystique (SOPK) est un désordre endocrinien avec une forte composante génétique. Les femelles touchées présentent avec des cycles anovulatoires, un spectre de troubles menstruels, et des caractéristiques des androgènes en excès. Nous présentons le cas de deux soeurs qui ont été diagnostiqués avec SOPK et ont des antécédents familiaux d'oligomenorrhoea en
leur grand-mère et SOPK chez leur mère et surs. Ils ont aussi des antécédents familiaux d'hypertension artérielle, diabète sucré et masse du sein qui sont connus co-morbidities associé de SOPK. Tous deux ont été gérés avec succès avec l'induction de l'ovulation à l'aide de citrate de clomifène. SOPK pourrait être familial comme dans nos patients et la recherche sera nécessaire pour définir le modèle génétique exact de l'héritage.
Mots clés: Tendance familiale, génétique, le syndrome des ovaires polykystique

Keywords: Familial trend, genetics, polycystic ovarian syndrome

How to cite this article:
Joe-kechebelu N N, Mbamara S U, Ikechebelu J I. Familial trend in polycystic ovarian syndrome: Report of two cases. Ann Afr Med 2013;12:182-4

How to cite this URL:
Joe-kechebelu N N, Mbamara S U, Ikechebelu J I. Familial trend in polycystic ovarian syndrome: Report of two cases. Ann Afr Med [serial online] 2013 [cited 2022 Dec 9];12:182-4. Available from:

   Introduction Top

Polycystic ovarian syndrome (PCOS) is a common endocrine disorder that has a strong genetic component with prevalence in the 5-10% range reported worldwide. [1],[2] PCOS is believed to be primarily a disorder of androgen excess; affected women frequently present with abdominal adiposity and insulin resistance, explaining the association of PCOS with metabolic co-morbidities and an increased cardiovascular risk. This report is a presentation of two of our patients who are sisters and have a family history of PCOS in their grandmother, mother, and her two other sisters. There was also a family history of hypertension, diabetes mellitus, and breast mass which are co-morbidities associated with PCOS. The exact genetic basis of PCOS is unknown but strong familial component clustering has been noted by other researches. [3],[4] Several candidate genes have also been proposed to contribute to its susceptibility. [3],[4]

   Case Reports Top

Case 1

A 25-year-old Para 1 +0 lady with one living child, first presented in 1999 as a single lady with periods of irregular menstruation, oligomenorrhoea, and amenorrhea. There was no expressible galactorrhea, significant weight changes, or symptoms suggestive of thyroid diseases. She attained menarche at the age of 15 years. She experienced occasional dysmenorrhea. There was a family history of PCOS in the mother, and her two other female siblings. Her grandmother had a history of oligomenorrhoea and diabetes mellitus. She is the first child in the family with 5 siblings; 2 girls and three boys. All her male siblings are dead while the females are alive. Her parents are also dead. There was a history of breast mass in the mother.

Physical examination showed a well nourished hairy lady who weighed 80 kg. Her height was 1.70 m giving a body mass index (BMI) of 27.68 kg/m 2 . There was no neck mass and no expressible galactorrhea. She had well developed secondary sexual characteristics. There was virgo intacta. Trans-abdominal pelvic ultrasonography revealed a normal sized, anteverted uterus with thickened endometrium (10 mm). Both ovaries were enlarged with many tiny follicles arranged on the periphery [Figure 1]. The follicular sizes varied from 5 mm to 9 mm. The volume of the right and left ovaries were 52 cm 3 and 21 cm 3, respectively. Hormone assay result was FSH 3.0 (2.56-3.6) mmol/l, LH 8.0 (5-20), prolactin 30 (6-24) ng/ml, estradiol 23 (43-202) pg/ml. The impression of chronic anovulation due to PCOS was made. She was counselled on the findings and modalities of management. She menstruated after progesterone challenge using medroxyprogesterone acetate tablets (Primolut N) 10 mg t.i.d for 5 days. The irregular menstruation was further managed with occasional induction of menstruation using combined oral contraceptive pills or progestogens until she got married. About 18 months into her marriage she presented with oligomenorrhea and primary infertility due to ovulatory factor. She had ovulation induction using Clomiphene citrate 100 mg daily for 5 days and metformin 500 mg daily. Clomiphene citrate was started on an initial daily dose of 50 mg from the second to the sixth day of induced periods. This dose was increased to clomiphene citrate 100 mg daily for 5 days and metformin 500 mg daily was introduced after initial cycle treatment with no response. At the 6 th cycle of the above management she achieved a pregnancy which was confirmed with trans-vaginal ultrasonography. The pregnancy was carried to term and she had a spontaneous vaginal delivery. She gave her consent for this publication.
Figure 1: Ultrasound picture showing polycystic ovary

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Case 2

A 20-year-old married, undergraduate, Para 0 +0 , younger sister to case 1 who presented on February 17, 2007 with periods of irregular menstruation, oligomenorrhea, and amenorrhea. Her last menstrual period was 7 months prior to presentation (July 2006). There were no weight changes; no diplopia or symptoms of thyroid diseases. There was neither expressible galactorrhea nor neck mass. She attained menarche at 14 years. The family history of similar menstrual problem is as detailed in Case 1.

Physical examination revealed a well nourished hairy young lady weighing 75 kg. Her height was 1.72 m giving a body mass index (BMI) of 25.35 kg/m 2 . The chest and abdominal examination were normal. Trans-vaginal pelvic ultrasonography revealed a normal sized anteverted uterus with endometrial thickness of 8.2 mm. Both ovaries were enlarged with peripherally located follicles of various sizes (each less than 10 mm).

She was counselled on her problem and withdrawal bleeding was induced with oral medroxyprogesterone acetate 10 mg t.i.d for 5 days. Subsequently, ovulation induction was commenced with an initial daily dose of 50 mg clomiphene citrate for 5 days starting on the second day of the induced menstrual period. This dose of 50 mg was increased by 50 mg per day after each cycle of treatment without adequate response till a daily dose of 150 mg clomiphene citrate. The cycles were monitored with transvaginal ultrasound scan. She is still on this medical treatment for PCOS and gave her consent for this publication.

   Discussion Top

PCOS is the most common cause of reproductive endocrinopathy in women of child bearing age. [1] It has a strong genetic component [5] and the key features include insulin resistance, androgen excess, and abnormal gonadotropin dynamics. The familial clustering of PCOS as exhibited in the family of our two cases have been reported suggesting that genetic factors play a role in the development of the syndrome although PCOS cases do not exhibit a clear pattern of mendelian inheritance. PCOS have been described in some studies to be a familial disorder with autosomal dorminant gene effect and a variable phenotype. [6] The inheritance has been suggested to be equally probably from maternal as from paternal side of the family. [6] It has also been noted to present the mode of co-dominant inheritance with complete penetrance. [7] PCOS in our patients/family were defined by the history of irregular menses, infertility, clinical features of hyperandrogenism and the ultrasonographic features of polycystic ovary. It is now known that PCOS represents a complex trait similar to type 2 - diabetes mellitus and obesity and that both inherited and environmental factors contribute to the PCOS pathogenesis. [5] Insulin resistance and adiposity puts women with PCOS at a high risk of diabetes mellitus, hypertension, dyslipidemia, and cardiovascular disease. It is more common in mother's side of the family. [8] Although most of the adverse health consequences associated with PCOS is substantial, most women are not aware of the risk, hence the need to intensify reproductive health education. There is also the need to screen and monitor patients with PCOS and their relations for adverse health conditions associated with PCOS pathology. PCOS-affected mothers of women with PCOS have a higher risk for cardiovascular events in comparison with non-PCOS mothers, and cardiovascular events appear to occur at an earlier than expected age in mothers with PCOS. [9] The history of breast mass in the mother of our two patients is very significant as some studies have shown a statistically significant association between PCOS and fibrocystic breast disease. [10],[11] Therefore, this family and women with PCOS and their relatives should be evaluated for fibrocystic breast disease and other breast masses.

In conclusion, PCOS has a familial trend and female siblings/offsprings' of such patients should be screened with pelvic ultrasound and/or FSH/LH levels for early detection and appropriate treatment. Also, further research is required to unravel the pattern of inheritance in PCOS.

   References Top

1.Khan KA, Stas S, Kurukulasuriya LR. Polycystic Ovarian Syndrome. J Cardiometab Syndr 2006;1:125-30.  Back to cited text no. 1
2.Ehrmann DA. Polycystic ovary syndrome. N Engl J Med 2005;352:1223-36.  Back to cited text no. 2
3.Xita N, Georgion I, Tsatsoulis A. The genetic basis of polycystic ovary sndrome. Eur J Endocrinol 2002;147:717-25.  Back to cited text no. 3
4.Amato P, Simpson JL. The genetics of polycystic ovary syndrome. Best Pract Res Clin Obstet Gynaecol 2004;18:707-18.  Back to cited text no. 4
5.Unluturk U, Harmani A, Kocaefe C, Yildiz BO. The genetic basis of the polycystic ovary syndrome: A literature review including discusion of PPAR - Gamma. PPAR Res 2007;2007:49109.  Back to cited text no. 5
6.Kasher-Miller M, Azziz R. Heritability and the risk of developing androgen excess. J Steroid Biochem Mol Biol 1999;69:261-8.  Back to cited text no. 6
7.Mao W, Li M, Chen Y, Lu C, Wang Y, Zhang X, et al. Study on the mode of inheritance for familial polycystic ovary syndrome. Zhonghua Yi Xue Yi Chau Xue Za Zhi 2001;18:21-3.  Back to cited text no. 7
8.Moini A, Eslami B. Familial associations between polycystic ovarian syndrome and common diseases. J Assist Reprod Genet 2009;26:123-7.  Back to cited text no. 8
9.Cheang KI, Nestler JE, Futterweit W. Risk of Cardiovascular events in the mothers of women with poly cystic ovary syndrome. Endocr Pract 2008;14:1084-94.  Back to cited text no. 9
10.Gumus II, Koktener A, Dogan D, Turhan NO. Polycystic ovary syndrome and fibrocystic breast disease: Is there any association. Arch Gynaecol Obstet 2009;280:249-53.  Back to cited text no. 10
11.D'Amelio R, Farris M, Grande S, Feraudo E, Iuliano A, Zichella L. Association between polycystic ovary and fibrocystic breast disease. Gynecol Obstet Invest 2001;51:134-7.  Back to cited text no. 11


  [Figure 1]

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