Association of Turner's Syndrome and Hypopituitarism: A Patient Report

Abstract

Turner's syndrome (TS) is associated with a wide spectrum of clinical features, such as short stature and gonadal dysgenesis. While it is a common chromosomal abnormality, the association of Turner's syndrome and hypopituitarism is an uncommon finding. We describe here a girl with concomitant pituitary insufficiency and gonadal dysgenesis. When she was 7 years old, her mother reported that she suffered from frontal headache, asthenia and delayed growth. Basal laboratory thyroid evaluation suggested hypothyroidism, with no evidence of autoimmune disease association. She began taking L-thyroxine. At age 11 years, short stature and complaints of frontal headache still persisted. She was still prepubertal and her bone age was delayed by 2.2 years. Her karyotype was compatible with 45,X/46,XX (100 cells analyzed by FISH) and a CT scan showed empty sella. At 12 years of age, an anterior pituitary stimulation test with insulin, gonadotropin-releasing hormone (GnRH) and thyrotropin-releasing hormone (TRH) showed gonadotropin, thyrotropin (TSH) and growth hormone (GH) deficiency. Replacement therapy with GH was begun and she grew 12 cm during the first year of treatment. This report illustrates that, despite the high incidence of sinusitis, short stature and primary hypothyroidism in TS, we should consider the presence of hypopituitarism when the patient presents low levels of TSH with negative thyroid antibodies and inappropriately low levels of gonadotropins for patients with gonadal dysgenesis.

Familial hypopituitarism associated with mosaic form of Turner syndrome

“…Several cases of TS with concomitant hypopituitarism are known in the literature [6,7], but to our knowledge no case of familial coincidence of these conditions has been reported to date. GH deficiency and hypothyroidism were diagnosed in the sisters during childhood, and they did not attain female sexual development.…”

“…There were no skeletal deformities typical for TS in our patients. GH and estrogen deficiency due to hypopituitarism are together responsible for low bone mineral density [5,7].…”

Coexistence of Growth Hormone Deficiency and Pituitary Microadenoma in a Child with Unique Mosaic Turner Syndrome: A Case Report and Literature Review

“…The coexistence of GH deficiency and TS is a very rare condition. To our knowledge, there are only a few reported cases of TS associated with GH deficiency (Table 1) [12,[14][15][16][17]. Pituitary adenomas have also rarely been identified in TS patients.…”

Concomitant occurrence of Turner syndrome and growth hormone deficiency

“…Efstathiadou and Tsatsoulis10) reported a 30-year-old woman with TS who was previously diagnosed with multiple pituitary hormone deficiency. Gallicchio et al9) reported a case of TS with the 45,X/46,XX karyotype and multiple pituitary hormone deficiency. Jin et al8) reported an 11-year-old girl with TS, GHD, and hypothyroidism.…”

“…Although a differential diagnosis between TS and GHD must be made among female pediatric patients who are admitted to the hospital with the chief complaint of short stature, several cases with concomitant TS and GHD had been reported891011). Nevertheless, the concurrent development of these two disorders is rare and has not yet been reported in Korea.…”