Pulsatile gonadotropin-releasing hormone therapy induces spermatogenesis in pituitary stalk interruption syndrome:A case report and review of the literature

BACKGROUND Pituitary stalk interruption syndrome(PSIS)is a rare anatomical defect of the pituitary gland falling under the spectrum of holoprosencephaly phenotypes.It is characterized by a deficiency in anterior pituitary hormones,such as growth hormone,gonadotropins,and thyroid hormones.Due to the syndrome's rarity and nonspecific manifestations,there is a lack of standardized treatment strategies.Consequently,early diagnosis through imaging and on-time intervention are crucial for improving patients’outcomes.CASE SUMMARY A 30-year-old man presented with absent secondary sexual characteristics and azoospermia.Laboratory evaluation revealed a deficiency in gonadotropins,while thyroid function was mostly within normal ranges.Magnetic resonance imaging of the pituitary gland showed pituitary stalk agenesis,hypoplasia of the anterior pituitary,and ectopic posterior pituitary,leading to the diagnosis of PSIS.Initially,the patient underwent 6 mo of gonadotropin therapy without significant changes in hormone levels and secondary sexual characteristics.Pulsatile gonadotropin-releasing hormone therapy was then administered,resulting in the detection of sperm in the semen analysis within 3 mo.After 6 mo,routine semen tests showed normal semen quality.The couple faced challenges in conceiving due to abstinence and underwent three cycles of artificial insemination,which was unsuccessful.They also attempted in vitro fertilization,but unfortunately,the woman experienced a miscarriage 10 wk after the embryo transfer.CONCLUSION Early detection,accurate diagnosis,and timely treatment are crucial in improving the quality of life and fertility of PSIS patients.

Pituitary stalk interruption syndrome and liver changes:From clinical features to mechanisms

Pituitary stalk interruption syndrome(PSIS)is a rare congenital abnormality characterized by thinning or disappearance of the pituitary stalk,hypoplasia of the anterior pituitary and an ectopic posterior pituitary.Although the etiology of PSIS is still unclear,gene changes and perinatal adverse events such as breech delivery may play important roles in the pathogenesis of PSIS.PSIS can cause multiple hormone deficiencies,such as growth hormone,which then cause a series of changes in the human body.On the one hand,hormone changes affect growth and development,and on the other hand,they could affect human metabolism and subsequently the liver resulting in nonalcoholic fatty liver disease(NAFLD).Under the synergistic effect of multiple mechanisms,the progression of NAFLD caused by PSIS is faster than that due to other causes.Therefore,in addition to early identification of PSIS,timely hormone replacement therapy and monitoring of relevant hormone levels,clinicians should routinely assess the liver function while managing PSIS.