Isolated gonadotropin deficiency associated with empty sella

Abstract

Empty sella syndrome may be associated with abnormal pituitary function. Low levels of growth hormone (GH) are most common, but other pituitary hormones may also be deficient. Case Report : The patient was a 30-year-old male who presented with complaints of failure to attain puberty, break in voice, gynecomastia, marfanoid features, under developed genitalia, and testicular atrophy. He had eunuchoid body proportions with a height of 177 cm, an arm span of 183 cm, a lower segment of 101 cm, and a sitting height of 79 cm. There was no anosmia or midline defects. A computed tomography scan showed empty sella turcica. Magnetic resonance imaging of the brain showed a hypoplastic pituitary within empty sella turcica and cerebrospinal fluid (CSF) collection surrounding the gland. His laboratory investigations showed low luteinizing hormone (LH), follicle stimulating hormone (FSH), and testosterone levels. The patient was treated with testosterone replacement and human chorionic gonadotropin (HCG). His condition improved after therapy except for persisting azoospermia. Conclusion: Uncommon presentation of isolated gonadotropin deficiency leading to delayed puberty due to pituitary cause.

Keywords: Empty sella, gonadotropin, hypogonadism

How to cite this article:
Chowta MN, Chowta NK. Isolated gonadotropin deficiency associated with empty sella. Ann Trop Med Public Health 2008;1:68-9

 

How to cite this URL:
Chowta MN, Chowta NK. Isolated gonadotropin deficiency associated with empty sella. Ann Trop Med Public Health [serial online] 2008 [cited 2020 Oct 26];1:68-9. Available from: https://www.atmph.org/text.asp?2008/1/2/68/50689

 

Introduction

Empty sella syndrome is the pathological variant of a radiologically verified empty sella. Empty sella syndrome may be associated with abnormal pituitary function. Low levels of growth hormone (GH) are the most common, but other pituitary hormones may also be deficient. In this article, we are describing a patient with hypogonadism with isolated gonadotropin deficiency associated with empty sella. [1] There were no such reports in earlier literature.

Case Report

The patient was a 30-year-old male who presented with complaints of failure to attain puberty, break in voice, gynecomastia, marfanoid features, under developed genitalia, and testicular atrophy. There was no history of parental consanguinity. He had no history of erection, ejaculation, or nocturnal emission. There was no history of trauma, visual disturbances, loss of consciousness, or convulsions. He was the eldest of 4 siblings and there was no family history of similar complaints or infertility. No history of loss or gain in weight. No history of continuous drug intake in the past. He had eunuchoid body proportions with a height of 177 cm, an arm span of 183 cm, a lower segment of 101 cm, and a sitting height of 79 cm. There was no anosmia or midline defects. A CT scan showed empty sella turcica. An MRI of the brain showed a hypoplastic pituitary within empty sella turcica and CSF collection surrounding the gland. There were no focal lesions in the gland or space occupying lesions. His karyotype was 46, XY. The patient had a micropenis (length is 5.5 cm) and absent pubic hair. Testes size was 2x2cm bilaterally with sensations preserved. Patient had scanty facial hair and absent chest/axillary hair. Vital signs and a systemic examination were normal.

His laboratory investigations were as follows (normal ranges for males in brackets): serum testosterone = 23 ng/dl (241-827) , LH = 0.5 IU/L (1-8.5), FSH = 0.2 IU/L (0.9-15), Prolactin = 6 ng/ml (2.1-17.7 ng/ml), serum estradiol<20 IU/L. TSH, T3, free T4, and serum cortisol were within normal limits. A peripheral smear showed microcytic hypochromic anemia, platelets were adequate. A total and differential count of white blood cells (WBC) was also within normal ranges. Hemoglobin levels were normal (11g%). No signs of hemochromatosis. A semen analysis showed azoospermia (volume: 3 ml).

The patient was treated with testosterone ecanthoate 250 mg IM given every 3 weeks. He was symptomatically better after therapy. He was able to have an erection and nocturnal emission. The patient had pain in the mammary region, which improved after injection. There was a change in his voice and his speech quality improved. Secondary sexual characters developed with an increase in facial hair (moustache) and an increase in axillary hair. But azoospermia persisted even after 5 months of treatment with testosterone injections. LH and FSH levels were also persistently low. The patient was switched over to HCG injection 2000 IU thrice a week. His testosterone level increased after HCG injection (842 ng/dl) but his LH and FSH levels remained low (FSH<0.100, LH<0.100). He continued receiving treatment with HCG. He was able to have an adequate erection and got married after a year but was infertile as the semen was azoospermic. Though he has been advised to take FSH injections, he was interested in artificial insemination and was referred to an infertility center.

Discussion

Delayed puberty is defined as the lack of initial signs of sexual maturation by an age that is more than 2-2.5 years above the mean for the population (13 years in girls and 14 years in boys). [2] Despite the clinical importance of delayed puberty, the understanding of this condition is hampered by the lack of studies evaluating etiologies and predisposed factors. One of the causes is hypogonadotropic hypogonadism due to deficient secretion of gonadotropin due to hypothalamic or pituitary disorders. Classic Kallmann Syndrome (KS) and idiopathic hypogonadotropic hypogonadism (IHH) are rare genetic conditions that encompass the spectrum of isolated hypogonadotropic hypogonadism. Most patients have a gonadotropin-releasing hormone (GnRH) deficiency, as suggested by their response to pulsatile GnRH therapy. Hypothalamic-pituitary function is otherwise normal in most patients, and hypothalamic-pituitary imaging reveals no space-occupying lesions. [3] By definition, either anosmia (lack of the sense of smell) or severe hyposmia is present in patients with KS, in contrast to patients with IHH, whose sense of smell is normal. [3]

In our patient, the features were not typical of Kallman’s Syndrome though he had isolated gonaditropin deficiency. The cause of gonadotropin deficiency may be pituitary hypoplasia as suggested by imaging studies, which showed empty sella and pituitary hypoplasia. But the isolated deficiency of gonadotropins with other pituitary hormones being normal is the rare presentation in this patient, which could not be explained well by the radiological findings alone. There were no reports of empty sella associated with isolated gonadotropin deficiency. As empty sella is seen in normal patients also, the isolated deficiency of gonadotropin observed in our patient could be due to other causes like genetic defects in GnRH secretion or action. GnRH could not be analysed in the present patient because of technical and financial difficulties.

Empty sella is a radiological diagnosis based on CT or MRI investigation. The radiological diagnosis does not mean a pathological situation in every instance. Many patients present without specific symptoms and the diagnosis is made by chance. Empty sella syndrome is the pathological variant of a radiologically verified empty sella. Busch, while reporting the presence of empty sella in 5% of normal subjects on autopsy studies, used the term “empty sella” to describe this condition. [1] Endocrine abnormalities are not a common occurrence. Hyper-prolactinemia occurs occasionally, possibly due to stalk stretching or coincidental micro-prolactinomas. The growth hormone secretory reserve is often abnormal in these patients, probably as a result of obesity. Occasionally, thyrotropin and gonadotropin deficiency is also noted. Rarely, empty sella is associated with hormone excess possibly due to coexisting micro-adenoma within the compressed gland. Spontaneous CSF rhinorrhoea and pseudotumour cerebri are two syndromes occasionally associated with an empty sella. [4] Children with an empty sella most commonly have GH deficiency, although other pituitary hormone dysfunctions may occur. In children with isolated GH deficiency or multiple pituitary deficiencies, empty sella was observed in 48% but was present in only 2% of children with normal pituitary function. [5] Secondary empty sella turcica is associated with an iatrogenic event such as surgery, radiation, or both; or with non-iatrogenic diseases such as infarction and infection of the pituitary gland.

Although testosterone therapy is sufficient for maturation and maintenance of secondary sex characteristics in hypogonadal men, gonadotropins are required for stimulation of spermatogenesis. The prognosis for successful stimulation of spermatogenesis in men with hypogonadotropic hypogonadism treated with hCG/hMG is good and not adversely affected by prior androgen treatment. Despite undetectable serum FSH levels, hCG treatment was sufficient to both initiate and maintain spermatogenesis in some patients. [6]

References

 

1. Agarwal JK, Sahay RK, Bhadada SK, Reddy VS, Agarwal NK. Empty sella syndrome. J Indian Acad Clin Med 2001;2:198-202.
2. Sedimeyer IL, Palmer MR. Delayed puberty: Analysis of a large case series from an academic center. J Clin Endocrinol Metab 2002;87:1613-20.
3. Pitteloud N, Acierno JS Jr, Meysing AU, Dwyer AA, Hayes FJ, Crowley WF Jr. Reversible kallmann syndrome, delayed puberty, and isolated anosmia occurring in a single family with a mutation in the fibroblast growth factor receptor 1 gene. J Clin Endocrinol Metab 2005;90:1317-22.
4. Bjerre P. The empty sella: A reappraisal of etiology and pathogenesis. Acta Neurol Scand Suppl 1990;130:1-25.
5. Pocecco M, De Campo O, Marinoni S, Tommasini G, Basso T, Muzzolini C, et al. High frequency of empty sella syndrome in children with growth hormone deficiency. Helv Paediatr Acta 1989;43:295-301.
6. Depenbusch M, Von Eckardstein S, Simoni M, Nieschlag E. Maintenance of spermatogenesis in hypogonadotropic hypogonadal men with human chorionic gonadotropin alone. Eur J Endocrinol 2002;147:617-24.

Source of Support: None, Conflict of Interest: None

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DOI: 10.4103/1755-6783.50689

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