Endocrine Abstracts

Introduction: Mixed gonadal dysgenesis with 45X/46XY mosaicism is considered to be a rare disorder of sex development. This condition is characterized by a phenotypically very heterogeneous clinical presentation. In fact, the individuals with 45X/46XY mosaicism ranged from phenotypically normal men with azoospermia, going through individuals with genital ambiguity, to women with Turner syndrome.

Herein, we describe a phenotypically Turner-like female with 45X/46XY mosaicism with coexisting hypopituitarism.

Case report: A 20-year-old female patient was referred to our department for short stature and primary amenorrhea. On examination, she had a body weight of 44 kg, a height of 138 cm (<−4S.D.), a body mass index of 23.1 kg/m², a round face with a low posterior hairlines and multiple cutaneous nevi. She had a female phenotype with female external genitalia (Tanner stage: B3 P2 A1). Her bone age was delayed.

Laboratory tests revealed a hypergonadotropic hypogonadism (FSH=115 mIU/ml, LH=38.33 mIU/ml, oestradiol <9 pg/ml), a normal thyroid function and a normal prolactin level. L dopa stimulating test showed growth hormone deficiency (peak GH=3.89 ng/ml) and insulin-induced hypoglycemia test confirmed GH and corticotropin deficiency.

Pelvic ultrasonography and MRI scan showed a hypoplastic uterus with no visualized ovaries. Pituitary MRI scan was normal. Echocardiography and renal sonography revealed no abnormalities. Cytogenetic analysis of peripheral blood revealed a karyotype with mos 45, X (18%)/46, XY (82%).

Patient was put on hormone replacement therapy. Laparoscopy showed apparently complete Müllerian structure with streak gonads. Bilateral prophylactic gonadectomy was performed.

Conclusion: The coexisting of Turner syndrome and hypopituitarism has rarely been reported. GH deficiency should be considered when the short stature is lower than that usually found in Turner syndrome.