Patients Profile

A young lady with progressive weight gain, irregular menstruation, hirsutism and pigmentation Dr. Naresh ParajuliPhase A resident Endocrinology and MetabolismBSMMU

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23 yearsUnmarried , female

Student Admitted through OPD on 12/5/2013

Presenting complains Irregular menstruation for 6 yearsProgressive weight gain for 3 years Excessive hair growth for 2 yearsPigmentation for 2 years

History of present illness

Irregular menstruation 6 years back

Occurring in every 40-45 days Menstrual bleeding lasting for 1-2 days Blood loss scanty in amountShe attended her menarche at 13 years of age which used to be regular ,normal in amount of blood loss and no eventful history for the next 4 years.

History of present complain contd..Progressive weight gain for 6 years

Weight gain during her childhood to adolescent period was as similar to other relatives of her age.Not associated with excessive serving size of food or increased snacking habit.Used to walk on foot to her school and college daily.No history of binge eating or nocturnal eating.Recorded weight 3 years back was 60 kg and 85 kg at presentAssociated with mechanical back pain , knee and ankle joint pain

History of present illness Excessive undesirable hair growth over her face,chin,chest ,back ,limbs.Not associated with changes of voice or balding of hair.Associated with generalized dark pigmentation on the pressure areas , more on the bony prominences of palmer and dorsal surface of hands ,medial malleoli, knee joints and neck.Not associated with enlargement of forehead,jaw hands and foot and visual problems.

History of present complain.She has been visiting different local practitioners for the last 6 years.2 years back was diagnosed as a case of PCOS with hypertension For the last one year she was on amlodipine+atenolol, losartan+hydrochlorothiazide, Estrogen and spirolactoneHer symptoms didnt subside and was referred to BSMMU for further evaluation and management.

Past historyNo genital abnormalities at birthNo history of dehydration ,syncope or unconsciousness preceded by infection or stress.

Drug historyNo history suggestive of any drugs or inhalers taken for chronic respiratory disease or skin diseases or any herbal medicines.

Family history

HTNDMHTN

No family history of virilisation or pigmentation.

Socio-economic historyLives in urban area Student of management( Masters level 1st year )Earning member of the family-father (grocery shopkeeper)Support from the family

General ExaminationLooks depressed.Obese with truncal fat distribution and relatively lean and thin limbsDeposition of fat at the root of neck and supraclavicular fossa.Acanthosis negricans over neck and axillaMoonlike ,puffy face ,baggy eyelid swelling with excessive hair over chin ,back ,limbs.Dark pigmentations pressure areas , more on the bony prominences of palmer and dorsal surface of hands ,medial malleoli, knee joints and neck

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General examinationHeight-153cmsWeight-85 kgs

BMI-36kg/m2 Waist circumference-123cmsNo anemia, Icterus,lymphadenopathy,cyanosis ,edema dehydration or raised JVPPulse-100 bmpBp-180/100 mmHg(on admission 200/120mm Hg)Temperature-98.6 fRespiratory rate-18/minute

Systemic examinationPer abdomen examination- Whitish Stria seen No organomegaly or masses on palpation.Genitourinary examination-No cliteromegaly seen Neurological examination No visual defect in confrontation testNo abnormality in other systemic examinations

Differential diagnosis1)Cushing syndrome due to pituitary cause(cushings disease2)Polycystic ovarian disease3)Metabolic syndome4)Late onset congenital aderenal hyperplasia

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Cushings syndrome

Points in favourPoints againstFacial presentationNo purple striaTruncal obesity,buffalo humpHirsutism,hypertensionNo brushing

Presentation of pigmentationNo Myopathy

Polycystic ovarian syndrome

Points in favourPoints againstYoung obese female Irregular menstruation Diagosis made after exclusion HirsutismOnset of irregular menstruation after peripubertal period

Typical presentation of pigmentation

Metabolic Syndrome

Points in favourPoints againstObesityHypertensionTypical facies

Presentation of dark pigmentationFamily history of diabetes mellitus,hypertension

Acanthosis Negricans

Investigations Hormonal profileBasal Cortisol-911 nmol/l (138-690 nmol/l)Prolactin-6.16ng/ml (1.9-25 ng/ml)Testesterone-78ng/dl (63-120 ng/ml)FSH-1.27miu/ml (2.8-11.3 miu/ml)LH-1.10miu/ml (1.1-11.6miu/ml)ACTH-186mic gm/24 hr (up to 46pg/ml)24 hour urine free cortisol test -186mic.gm/24 hr

(50-190 mic.gm/24hr)FT4-1.30 ng/dl (0.8-1.8ng/dl)TSH-o.52mIU (0.35-5.5mIU/ml

InvestigationsFasting blood glucose-4mmol/lSerum cholesterol-212mg/dlHDL-40 mg/dlLDL-135mg/dlTG-182mg/dlS.potassium -3.9mm0l/lS.sodium-144mmol/lAbdominal ultrasound -fatty changes in liver,bilateral small ovaries with multiple immature follicles

ProblemsWhat is the diagnosis of the case?What should be the further plan for the management of the case?What is the chance for the patient to lead a normal married life?

Thank you

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