McCune Albright Syndrome: A Diagnosis to be Kept in Mind

Precocious puberty, defined as the development of secondary sexual characteristics before the age of 8, often leads to anxiety in patients and their families but also in clinicians searching for the final diagnosis. After adequate investigation, the majority of the cases in girls turn out to be idiopathic. The authors present a case of McCune Albright syndrome in order to call attention to a rare cause of sexual precocity and the value of ultrasound in the evaluation of these situations. 10 years old infant girl admitted in our department due to irregular menstrual bleeding. She experienced a vaginal bleeding by the age of 3 which led to the diagnosis of McCune Albright Syndrome after a complete evaluation. Pubertal assessment revealed a reversed sequence in the remaining events with adrenarche at 5 and thelarche at 8. Hormonal evaluation demonstrated low FSH and LH levels (11,2 and 6,72 respectively) with high estrogen (204). Pelvic ultrasound showed a normal sized uterus (73x 29x32 mm), endometrial thickness of 5 mm and ovaries with several microfollicles and a copus luteum measuring 23 mm in the right ovary. McCune Albright syndrome is a very uncommon cause of sexual precocity that should, however, be suspected in all infant girls who present with vaginal bleeding. It is characterized by a triad: polyostotic fibrous dysplasia, gonadotropin-independent precocious puberty and café-au-lait skin spots. Due to autonomous production of estrogen by the ovaries, ultrasound image of the female reproductive tract is inconsistent with chronologic age. Pelvic ultrasound demonstrates a normal sized uterus with a well defined cervix and clearly identified ovaries with several follicles, similar to adult women of reproductive age. Ultrasonography of the pelvis has also an important role excluding other causes of GnRH-independent precocious puberty conditions like ovarian cysts or tumors.

Newborn Female with a Right Groin Lump

A 1 month old girl presented to the emergency department with a right groin lump and frequent crying. White and red blood cell counts were within the normal range. In addition, the ESR, CRP,liver and renal function tests were also normal.

EULAR Recommendations for Women's Health and the Management of Family Planning, Assisted Reproduction, Pregnancy and Menopause in Patients with Systemic Lupus Erythematosus and/or Antiphospholipid Syndrome

OBJECTIVES: Develop recommendations for women's health issues and family planning in systemic lupus erythematosus (SLE) and/or antiphospholipid syndrome (APS). METHODS: Systematic review of evidence followed by modified Delphi method to compile questions, elicit expert opinions and reach consensus. RESULTS: Family planning should be discussed as early as possible after diagnosis. Most women can have successful pregnancies and measures can be taken to reduce the risks of adverse maternal or fetal outcomes. Risk stratification includes disease activity, autoantibody profile, previous vascular and pregnancy morbidity, hypertension and the use of drugs (emphasis on benefits from hydroxychloroquine and antiplatelets/anticoagulants). Hormonal contraception and menopause replacement therapy can be used in patients with stable/inactive disease and low risk of thrombosis. Fertility preservation with gonadotropin-releasing hormone analogues should be considered prior to the use of alkylating agents. Assisted reproduction techniques can be safely used in patients with stable/inactive disease; patients with positive antiphospholipid antibodies/APS should receive anticoagulation and/or low-dose aspirin. Assessment of disease activity, renal function and serological markers is important for diagnosing disease flares and monitoring for obstetrical adverse outcomes. Fetal monitoring includes Doppler ultrasonography and fetal biometry, particularly in the third trimester, to screen for placental insufficiency and small for gestational age fetuses. Screening for gynaecological malignancies is similar to the general population, with increased vigilance for cervical premalignant lesions if exposed to immunosuppressive drugs. Human papillomavirus immunisation can be used in women with stable/inactive disease. CONCLUSIONS: Recommendations for women's health issues in SLE and/or APS were developed using an evidence-based approach followed by expert consensus.