Primary Partial Empty Sella presenting with Prepubertal Hypogonadotropic Hypogonadism: A Case Report

Primary partial empty sella occurs when less than 50% of an enlarged or deformed sella turcica is filled with cerebrospinal fluid in the setting of unidentified etiologic pathological conditions. Prepubertal hypogonadotropic hypogonadism presenting as its main manifestation is rare since its peak incidence commonly occurs late at 30 to 40 years of age and has a sexual predilection for female. We described a case of 20-year-old male who presented with micropenis and absent secondary sex characteristics. Work up showed cranial MRI finding of partial empty sella, low testosterone, LH, FSH, Estradiol and Beta HCG levels. Sex hormone replacement may not improve fertility for this case but may help produce and maintain virilization and prevent future complications of hypogonadotropic hypogonadism.

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Misleading normal TSH and persistently elevated creatine kinase: clues to the diagnosis of chronic Sheehan’s syndrome

BMJ Case Reports ◽

10.1136/bcr-2021-243992 ◽

2021 ◽

Vol 14 (8) ◽

pp. e243992

Author(s):

Ayşe Y Demir ◽

Christine P Oldenburg-Ligtenberg ◽

Bianca Loredana Toma-Stan ◽

Albert van de Wiel

Keyword(s):

Creatine Kinase ◽

Postpartum Haemorrhage ◽

Hormone Replacement ◽

Sella Turcica ◽

Reference Interval ◽

Thyroid Stimulating Hormone ◽

Empty Sella ◽

Sheehan’S Syndrome ◽

Elevated Creatine Kinase ◽

Sheehan's Syndrome

A 53-year-old woman was referred for medical evaluation of therapy-resistant dyslipidaemia accompanied by elevated creatine kinase levels. Because cessation or alteration of her medication did not improve laboratory abnormalities, hypothyroidism was considered, despite the fact that thyroid stimulating hormone levels were within the reference interval. On further evaluation, she was found to have panhypopituitarism and empty sella turcica as shown by MRI. These findings were unexpected since there was no clinical suspicion during detailed evaluation. When supplementary questions were asked, she brought up a history of severe postpartum haemorrhage 30 years ago, for which she underwent a hysterectomy. Based on these findings, the patient was diagnosed with Sheehan’s syndrome. This syndrome is a rare but potentially life-threatening complication of postpartum haemorrhage, characterised by varying degrees of hypopituitarism that are most commonly presented many years after delivery. The patient recovered after adequate hormone replacement therapy.

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Inducing puberty

Acta Endocrinologica ◽

10.1530/eje-08-0314 ◽

2008 ◽

Vol 159 (suppl_1) ◽

pp. S9-S15 ◽

Cited By ~ 40

Author(s):

Eveline M Delemarre ◽

Bram Felius ◽

Henriette A Delemarre-van de Waal

Keyword(s):

Sex Steroids ◽

Developmental Disorders ◽

Genetic Disorder ◽

Hypogonadotropic Hypogonadism ◽

Gonadal Development ◽

Delayed Puberty ◽

Sex Characteristics ◽

Cerebral Tumor ◽

Pituitary Dysfunction ◽

Secondary Sex Characteristics

Puberty is the result of increasing pulsatile secretion of the hypothalamic gonadotropin releasing hormone (GnRH), which stimulates the release of gonadotropins and in turn gonadal activity.In general in females, development of secondary sex characteristics due to the activity of the gonadal axis, i.e., the growth of breasts, is the result of exposure to estrogens, while in boys testicular growth is dependent on gonadotropins and virilization on androgens.Hypogonadotropic hypogonadism is a rare disease. More common is the clinical picture of delayed puberty, often associated with a delay of growth and more often familial occurring. Especially, boys are referred because of the delay of growth and puberty. A short course (3–6 months) of androgens may help these boys to overcome the psychosocial repercussions, and during this period an increase in the velocity of height growth and some virilization will occur.Hypogonadotropic hypogonadism may present in a congenital form caused by developmental disorders, some of which are related to a genetic disorder, or secondary to hypothalamic–pituitary dysfunction due to, among others, a cerebral tumor.In hypogonadotropic hypogonadism puberty can be initiated by the use of pulsatile GnRH, gonadotropins, and sex steroids. Sex steroids will induce development of the secondary sex characteristics alone, while combined administration of gonadotropins and GnRH may induce gonadal development including fertility.

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Anterior Hypopituitarism and Treatment Response in Hunter Syndrome: A Comparison of Two Patients

Case Reports in Pediatrics ◽

10.1155/2016/4328492 ◽

2016 ◽

Vol 2016 ◽

pp. 1-5 ◽

Cited By ~ 1

Author(s):

Munier A. Nour ◽

Paola Luca ◽

David Stephure ◽

Xing-Chang Wei ◽

Aneal Khan

Keyword(s):

Growth Velocity ◽

Incidental Finding ◽

Final Height ◽

Hormone Replacement ◽

Sella Turcica ◽

Clinical Importance ◽

Hunter Syndrome ◽

Empty Sella ◽

Gh Treatment ◽

Poor Growth

Hypopituitarism is a clinically important diagnosis and has not previously been reported in Hunter syndrome. We contrast two cases with anatomic pituitary anomalies: one with anterior panhypopituitarism and the other with intact pituitary function. Patient 1, a 10-year-old boy with Hunter syndrome, was evaluated for poor growth and an ectopic posterior pituitary gland. Endocrine testing revealed growth hormone (GH) deficiency, secondary adrenal insufficiency, and tertiary hypothyroidism. An improvement in growth velocity with hormone replacement (GH, thyroxine, and corticosteroid) was seen; however, final adult height remained compromised. Patient 2, a 13-year-old male with Hunter syndrome, was evaluated for growth failure. He had a large empty sella turcica with posteriorly displaced pituitary. Functional endocrine testing was normal and a trial of GH-treatment yielded no significant effect. Panhypopituitarism associated with pituitary anomalies has not been previously reported in Hunter syndrome and was an incidental finding of significant clinical importance. In the setting of documented anterior hypopituitarism, while hormone replacement improved growth velocity, final height remained impaired. In patient 2 with equivocal GH-testing results, treatment had no effect on linear growth. These cases highlight the importance of careful clinical assessment in Hunter syndrome and that judicious hormone replacement may be indicated in individual cases.

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Kallmann syndrome and ichthyosis: a case of contiguous gene deletion syndrome

Endocrinology Diabetes and Metabolism Case Reports ◽

10.1530/edm-17-0083 ◽

2017 ◽

Vol 2017 ◽

Cited By ~ 3

Author(s):

Irene Berges-Raso ◽

Olga Giménez-Palop ◽

Elisabeth Gabau ◽

Ismael Capel ◽

Assumpta Caixàs ◽

...

Keyword(s):

Metabolic Syndrome ◽

Hypogonadotropic Hypogonadism ◽

Kallmann Syndrome ◽

Gonadotropin Releasing Hormone ◽

Sex Characteristics ◽

Steroid Sulfatase ◽

Olfactory Bulbs ◽

Releasing Hormone ◽

Secondary Sex Characteristics ◽

Contiguous Gene

Summary Kallmann syndrome is a genetically heterogeneous form of hypogonadotropic hypogonadism caused by gonadotropin-releasing hormone deficiency and characterized by anosmia or hyposmia due to hypoplasia of the olfactory bulbs; osteoporosis and metabolic syndrome can develop due to longstanding untreated hypogonadism. Kallmann syndrome affects 1 in 10 000 men and 1 in 50 000 women. Defects in 17 genes, including KAL1, have been implicated. Kallmann syndrome can be associated with X-linked ichthyosis, a skin disorder characterized by early onset dark, dry, irregular scales affecting the limb and trunk, caused by a defect of the steroid sulfatase gene (STS). Both KAL1 and STS are located in the Xp22.3 region; therefore, deletions in this region cause a contiguous gene syndrome. We report the case of a 32-year-old man with ichthyosis referred for evaluation of excessive height (2.07 m) and weight (BMI: 29.6 kg/m2), microgenitalia and absence of secondary sex characteristics. We diagnosed Kallmann syndrome with ichthyosis due to a deletion in Xp22.3, a rare phenomenon. Learning points: Kallmann syndrome is a genetically heterogeneous disease characterized by hypogonadotropic hypogonadism with anosmia or hyposmia associated with defects in the production or action of gonadotropin-releasing hormone (GnRH) and hypoplasia of the olfactory bulbs. Several genes have been implicated in Kallmann syndrome, including KAL1, located in the Xp22.3 region, which is responsible for X-linked Kallmann syndrome. KAL1 encodes the protein anosmin-1. X-linked ichthyosis is caused by deficiency of the steroid sulfatase enzyme, encoded by STS, which is also located in the Xp22.3 region. Deletions involving this region can affect both genes and result in contiguous gene syndromes. Phenotype can guide clinicians toward suspicion of a specific genetic mutation. KAL1 mutations are mostly related to microgenitalia, unilateral renal agenesis and synkinesia, although patients need not present all these abnormalities. Longstanding untreated hypogonadism is associated with poor sexual health, osteoporosis and metabolic syndrome with the concomitant risk of developing type 2 diabetes mellitus and obesity. Treatment aims to promote the development of secondary sex characteristics, build and sustain normal bone and muscle mass and restore fertility. Treatment can also help minimize some psychological consequences. Treatments available for patients with congenital GnRH deficiency such as Kallmann syndrome include gonadal steroid hormones, human gonadotropins and GnRH. The choice of therapy depends on the goal or goals.

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Endocrinology of the menopause and hormone replacement therapy

Oxford Textbook of Endocrinology and Diabetes ◽

10.1093/med/9780199235292.003.0116 ◽

2011 ◽

pp. 1492-1503

Author(s):

Henry G. Burger ◽

Helena J. Teede

Keyword(s):

Hormone Replacement ◽

Endocrine Function ◽

Sex Characteristics ◽

Pathological State ◽

Human Ovary ◽

Secondary Sex Characteristics ◽

Reproductive Life ◽

Central Nervous Systems ◽

Approach Zero ◽

Oestradiol Production

A major endocrine function of the human ovary is the production of oestradiol, a hormone essential for the development of the secondary sex characteristics, for normal reproduction, and for the integrity of the cardiovascular, skeletal, and central nervous systems in particular. Oestradiol is a product of the granulosa cells, and hence its secretion is dependent largely on the presence of ovarian follicles. The number of those follicles falls steeply in the last 10 years or so of reproductive life (1), to approach zero at around the time of final menses (Fig. 10.1.2.1). This results in a profound decline in oestradiol production, to levels less than 10% of those observed during reproductive life. The question of whether the consequences of this decline are to be regarded as ‘natural,’ or as giving rise to a pathological state of oestrogen deficiency, is a controversial one. This chapter describes the endocrine changes which take place from the mid-reproductive years through to the postmenopausal years, and addresses the consequences of these changes and their possible prevention.

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Primary empty sella syndrome: Characteristics of the pituitary deficiency. A bicentric case series.

10.32512/jmr.3.1.2020/3.7 ◽

2020 ◽

pp. 3-7

Keyword(s):

Hormone Replacement ◽

Sella Turcica ◽

Case Series ◽

Empty Sella ◽

Pituitary Function ◽

Hormone Deficiency ◽

Pituitary Hormone ◽

Pituitary Hormone Deficiency ◽

Pituitary Deficiency ◽

Primary Empty Sella

Background and aim Empty sella is the neuroradiological or pathological finding of an apparently empty sella turcica. The aim of the study was to analyze the clinical, hormonal and radiological characteristics of patients with empty sella and to compare anterior pituitary function in total versus partial primary empty sella. Methods The records of 36 patients with primary empty sella were retrospectively analyzed over a 24-years period. The patients were evaluated for pituitary function with basal hormone levels (FT4, TSH, IGF1, FSH, LH, cortisol, ACTH, prolactin) and dynamic testing when necessary. Results Our study included 26 women and 10 men with an average age of 47.64 ±15.47 years. Seventy-six per cent of women were multiparous. Fifteen patients were obese. The revealing symptoms were dominated by endocrine signs (52.7%). More than half of our patients complained of headache. Sixty-one of the patients had partial empty sella and the remaining 39% had total empty sella. Two or more pituitary hormone deficiency were found in 41% of cases. Secondary adrenal insufficiency was the most common pituitary hormone deficiency(41.7%).The percentage of hypopituitarism in complete primary empty sella was significantly higher than that in partial primary empty sella (P<0.05).The management was based on hormone replacement therapy in case of hypopituitarism and on analgesic therapy in case of headache. Conclusion The diagnosis of PES must be evoked in an obese, multiparous, hypertensive woman presenting with a symptomatology suggestive of a pituitary deficiency or chronic headache. The correlation between pituitary gland volume and the degree of hypopituitarism highlights the importance of the early diagnosis and hormones replacement.

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Empty sella syndrome presenting as panhypopituitarism in a child

Bangabandhu Sheikh Mujib Medical University Journal ◽

10.3329/bsmmuj.v6i1.29086 ◽

2016 ◽

Vol 6 (1) ◽

pp. 58

Author(s):

Sharmin Jahan ◽

Masfiq-Ul- Hasant ◽

Nusrat Sultana ◽

Md. Fariduddin ◽

Mohammad Enayet Hussain ◽

...

Keyword(s):

Wrist Joint ◽

Incidental Finding ◽

Hormone Replacement ◽

Sella Turcica ◽

Bone Age ◽

Empty Sella ◽

Response To Treatment ◽

Growth Hormone Replacement Therapy ◽

Radiologic Imaging

Empty Sella refers to the absence or relative absence of the pituitary gland on radiologic imaging of the Sella turcica. This is usually an incidental finding, and as few as 10% patients presents with Hypopituitarism. The authors report a 13.5-year-old boy who presei1ted with short stature and absence of signs of pubertal onset. Hormonal assay showed panhypopituitarism. X-ray left wrist joint showed delayed bone age and finally MRl of the brain revealed empty Sella. Growth hormone replacement therapy was started to increase the height. The boy is now on regular follow up to monitor response to treatment.

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Primary Amenorrhea: Analysis of 108 Cases

Journal of SAFOG with DVD ◽

10.5005/jp-journals-10006-1075 ◽

2010 ◽

Vol 2 (2) ◽

pp. 105-108

Author(s):

TA Chowdhury ◽

Nusrat Mahmud ◽

Habiba Khatoon

Keyword(s):

Sex Characteristics ◽

Primary Amenorrhea ◽

Primary Amenorrhoea ◽

Secondary Sex Characteristics ◽

Physical Examinations ◽

Laparoscopic Evaluation ◽

Transabdominal Sonography ◽

Secondary Sex Characters ◽

Work Up

ABSTRACT Primary amenorrhea is defined as the absence of menses in females by the age of 14 years in the absence of secondary sex characteristics or the absence of periods by the age of 16 years regardless of appearance of secondary sex characters. A total of 108 cases of primary amenorrhea were referred to gynecological out-patient department of BIRDEM Hospital, Bangladesh between July 1995 to July 2008. These patients were studied with the aim to find out the cause of amenorrhea. After taking the detailed history, physical examinations and necessary investigations, patients were subjected to laparoscopic evaluation. The study highlights the role of transabdominal sonography in the work up of these cases and compare those with laparoscopic findings. About 69.4% of primary amenorrhoea were due to mullerian dysgenesis; 19.4% due to gonadal dysgenesis; 2.7% due to male pseudohermaphroditism with virilization; 2.7% due to genital tuberculosis and only one case was due to testicular feminization syndrome. Sonographic findings differ from laparoscopic findings in many cases. It can be observed that for optimal evaluation of primary amenorrhea, laparoscopy is the key tool for diagnosis.

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Women’s Preferences for Strong Men Under Perceived Harsh Versus Safe Ecological Conditions

Evolutionary Psychology ◽

10.1177/14747049211032351 ◽

2021 ◽

Vol 19 (3) ◽

pp. 147470492110323

Author(s):

Ray Garza ◽

Farid Pazhoohi ◽

Jennifer Byrd-Craven

Keyword(s):

Ecological Factors ◽

Ecological Condition ◽

Sex Characteristics ◽

Ecological Conditions ◽

University Women ◽

Secondary Sex Characteristics ◽

Trade Offs ◽

Forced Choice Task ◽

Women’S Preferences ◽

Physical Features

Ecological conditions provide information about available resources for one’s environment. In humans, this has been shown to influence reproductive behavior, as individuals may engage in trade-offs between partner quality and investment. For instance, many women may trade-off preferences for men with physical features indicative of social dominance and health over physical features indicative of commitment and investment. The current study explored women’s preferences for formidable men under safe vs. harsh ecological conditions. Across three studies, U.S. university women ( N = 1,098) were randomly assigned to a perceived harsh or safe ecological condition. They were asked to rate the attractiveness of men’s body types (i.e., muscular vs. less muscular). Findings revealed that in general, women rated stronger men as more attractive than weaker men irrespective of the ecological condition. Evidence for preference as a function of ecology appeared only when a two-alternative forced-choice task was used (Study 3), but not in rating tasks (Studies 1 and 2). Study 3 showed that women had a relatively stronger preference for stronger men for short-term relationships in a resource scarce ecological condition. This research provides some evidence that perceived ecological conditions can drive women’s preferences for men with enhanced secondary sex characteristics as a function of mating context. These findings are consistent with previous research indicating the importance of physical characteristics in men’s attractiveness, and it adds to the existing literature on ecological factors and mating preferences.

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Endocrine Dysfunction in Prader-Willi Syndrome: A Review with Special Reference to GH

Endocrine Reviews ◽

10.1210/edrv.22.6.0447 ◽

2001 ◽

Vol 22 (6) ◽

pp. 787-799 ◽

Cited By ~ 167

Author(s):

Pia Burman ◽

E. Martin Ritzén ◽

Ann Christin Lindgren

Keyword(s):

Replacement Therapy ◽

Lean Body Mass ◽

Body Mass ◽

Genetic Disorder ◽

Hormone Replacement ◽

Hypogonadotropic Hypogonadism ◽

Endocrine Disorders ◽

Prader Willi Syndrome ◽

Gh Treatment ◽

Pituitary Dysfunction

Abstract Prader-Willi syndrome is a genetic disorder occurring in 1 in 10,000–16,000 live-born infants. In the general population, approximately 60 people in every 1,000,000 are affected. The condition is characterized by short stature, low lean body mass, muscular hypotonia, mental retardation, behavioral abnormalities, dysmorphic features, and excessive appetite with progressive obesity. Furthermore, morbidity and mortality are high, probably as a result of gross obesity. Most patients have reduced GH secretory capacity and hypogonadotropic hypogonadism, suggesting hypothalamic-pituitary dysfunction. Replacement of GH and/or sex hormones may therefore be beneficial in Prader-Willi syndrome, and several clinical trials have now evaluated GH replacement therapy in affected children. Results of GH treatment have been encouraging: improved growth, increased lean body mass, and reduced fat mass. There was also some evidence of improvements in respiratory function and physical activity. The long-term benefits of GH treatment are, however, still to be established. Similarly, the role of sex hormone replacement therapy needs to be clarified as few data exist on its efficacy and potential benefits. In summary, Prader-Willi syndrome is a disabling condition associated with GH deficiency and hypogonadism. More active treatment of these endocrine disorders is likely to benefit affected individuals.

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