Endocrine Abstracts

Introduction: Congenital combined pituitary hormone deficiency (CCPHD) is a rare disorder characterized by an impaired production of two or more hormones of the anterior pituitary gland. It is linked to different genetic mutations and requires an early diagnosis to prevent burdensome developmental consequences. Primary ovarian insufficiency, disparately is the depletion of ovarian function with loss of functional primordial follicles before the age of 40 years due to multiple etiologies including genetic causes. The association between CCPHD and primary ovarian insufficiency has rarely been documented representing thus an uncommon and unexpected condition that merits case report herein.

Case presentation: A 14-year-old female was referred to our department for delayed growth. Born at term with no history of perinatal insult, she was diagnosed with central congenital hypothyroidism in a pediatric unit and L-thyroxine replacement therapy was started. Within the next few years, the patient presented a decrease in growth velocity. Short stature and delayed development were observed. The anthropometric measurements showed weight 28 kgs (between -3SDS and -2SDS) and height 121 cms (-4SDS) with height genetic target of 175 cm. Her secondary sexual characters rated S1, P1 and A0 according to Tanner’s classification. There were no dysmorphic features. She had delayed bone age in relation to chronological age (bone age according to Greulich and Pyle method: 9 years and 6 months). The evaluation of growth hormone (GH) secretion revealed GH deficiency (GH peak response to insulin: inferior to 0.25 mUI/l; GH peak response to glucagon: 0.51 mUI/l). The insulin tolerance test disclosed corticotropin deficiency. ACTH, Prolactin levels were respectively 21.6 pg/ml, 11μg/l. The further investigation of the pituitary gland via magnetic resonance imaging demonstrated congenital pituitary hypoplasia. The patient started consequently GH and glucocorticoid-supplementary therapy. When she was 16-years old, she had primary amenorrhea associated to absence of secondary sexual characters development. Gonadotropin levels were elevated: FSH was 72.9 UI/l and LH was 26.34 UI/l. Pelvic ultrasound showed uterine hypoplasia. The karyotype was 46 XX. Primary ovarian insufficiency was then diagnosed.

Conclusion: This report outlines an unprecedented coexistence of CCPHD (thyrotropin, somatotropin, corticotropin deficiencies in our sample) and primary ovarian insufficiency. A further genetic analysis is essential although the cause remains unidentified in the majority of cases. Early recognition of these disorders is paramount as delay in replacement therapy can have devastating consequences.