Mosaicism Triple X Syndrome in a Young Woman Presenting as Primary Amenorrhea with Short Stature

Turner's syndrome is the most common karyotypic abnormality causing gonadal failure and primary amenorrhea. It is characterized by short stature and absence of secondary sexual characteristics. It is diagnosed by increased plasma FSH and LH level with low level of estrogen i.e. hypergonadotrophic hypogonadism. Ultrasound abdomen reveals streak ovaries and atrophic uterus. Karyotype confirms the diagnosis of Turner's syndrome (45XO). We present here a 15 years girl who presented with primary amenorrhea with short stature with breast development corresponds to Tanner stage I. Her FSH was raised. Ultrasound abdomen showed uterine agenesis and streak ovaries. Karyotype showed 45XO which confirmed the diagnosis of Turner's syndrome. She is now on estrogen therapy and her height has increased and breast development corresponds to Tanner stage II. Keywords: hypergonadotrophic hypogonadism, primary amenorrhea, Turner's syndrome

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45,X/47,XXX Mosaicism and Short Stature

Case Reports in Pediatrics ◽

10.1155/2015/263253 ◽

2015 ◽

Vol 2015 ◽

pp. 1-3 ◽

Cited By ~ 2

Author(s):

Erica Everest ◽

Laurie A. Tsilianidis ◽

Anzar Haider ◽

Douglas G. Rogers ◽

Nouhad Raissouni ◽

...

Keyword(s):

Short Stature ◽

Turner Syndrome ◽

Vesicoureteric Reflux ◽

Kidney Dysfunction ◽

Triple X Syndrome ◽

Special Case

We describe the case of a ten-year-old girl with short stature and 45,X/47,XXX genotype. She also suffered from vesicoureteric reflux and kidney dysfunction prior to having surgery on her ureters. Otherwise, she does not have any of the characteristics of Turner nor Triple X syndrome. It has been shown that this mosaic condition as well as other varieties creates a milder phenotype than typical Turner syndrome, which is what we mostly see in our patient. However, this patient is a special case, because she is exceptionally short. Overall, one cannot predict the resultant phenotype in these mosaic conditions. This creates difficulty in counseling parents whose children or fetuses have these karyotypes.

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Molecular breakpoint analysis and relevance of variable mosaicism in a woman with short stature, primary amenorrhea, unilateral gonadoblastoma, and a 46,X,del(Y)(q11)/45,X karyotype

American Journal of Medical Genetics ◽

10.1002/ajmg.10612 ◽

2002 ◽

Vol 112 (1) ◽

pp. 51-55 ◽

Cited By ~ 3

Author(s):

Dieter Kotzot ◽

Andreas Dufke ◽

Andreas Tzschach ◽

Iris-Tatjana Baeckert-Sifeddine ◽

Martin. Geppert ◽

...

Keyword(s):

Short Stature ◽

Primary Amenorrhea ◽

Breakpoint Analysis

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Turner Syndrome with Isochromosome Xq

Journal of Pediatric Genetics ◽

10.1055/s-0039-3399496 ◽

2019 ◽

Vol 09 (04) ◽

pp. 243-245

Author(s):

Gülbahar Güzel Erdal ◽

Mahmut Balkan

Keyword(s):

Short Stature ◽

Turner Syndrome ◽

Growth Retardation ◽

Primary Amenorrhea ◽

Psychomotor Skills ◽

Severe Phenotype ◽

Laboratory Findings ◽

Mosaic Karyotype

AbstractShort stature and growth retardation in girls commonly occur in patients with Turner syndrome. We present a 19-year-old-girl with primary amenorrhea and growth retardation, who has a mosaic karyotype, 46X,i(Xq)[17]/45,X[8]. Classic Turner syndrome has a more severe phenotype than variant causes of Turner syndrome. We present a patient with 46,X,i(Xq) karyotype and compare the clinical and laboratory findings with the classic description of Turner syndrome. Our patient has normal social and psychomotor skills unlike previously reported cases in the literature. This case expands the phenotype–genotype description of Turner syndrome, which makes it an important contribution to the literature.

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Successful treatment of short stature with growth hormone replacement therapy in a patient with anorexia nervosa

International Journal of Adolescent Medicine and Health ◽

10.1515/ijamh-2015-0071 ◽

2015 ◽

Vol 29 (4) ◽

Author(s):

Yuji Koike ◽

Masaya Akibayashi ◽

Yukako Yokouchi

Keyword(s):

Growth Hormone ◽

Anorexia Nervosa ◽

Replacement Therapy ◽

Short Stature ◽

Hormone Replacement ◽

Bone Age ◽

Delayed Puberty ◽

Primary Amenorrhea ◽

Gh Treatment ◽

Igf I

Abstract A 19-year-old woman visited our outpatient clinic requesting treatment for short stature. She had been repeatedly hospitalized at a psychiatric unit and was subsequently diagnosed with anorexia nervosa (AN). She was 139.3 cm (–3.6 SD) tall and weighed 25.5 kg (23% lower than standard weight). She had primary amenorrhea and her bone age (BA) was 11.8 years. She had low insulin-like growth factor (IGF)-I (80 ng/mL) and a basal growth hormone (GH) level of 1.47 ng/mL. Treatment with recombinant GH was initiated. At 22 years of age, she was 152.2 cm (–1.1 SD) tall and weighed 39.7 kg. As she had shown a favorable response to GH treatment, therapy was discontinued. We suggest that it is worthwhile treating AN patients with GH replacement therapy for short stature, once low IGF-I levels without GH resistance, delayed puberty, delay in BA, and nutritional stabilization are taken into consideration.

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Stimulation of Growth Hormone Secretion by Levodopa-Peopranolol in Children and Adolescents

PEDIATRICS ◽

10.1542/peds.56.2.262 ◽

1975 ◽

Vol 56 (2) ◽

pp. 262-266

Author(s):

Robert Collu ◽

Gilles Leboeuf ◽

Jacques Letarte ◽

Jacques R. Ducharme

Keyword(s):

Growth Hormone ◽

Short Stature ◽

Hormone Secretion ◽

Growth Hormone Secretion ◽

Hormone Deficiency ◽

Primary Amenorrhea ◽

Provocative Test ◽

Insulin Tolerance ◽

Chromophobe Adenoma ◽

The Mean

Levodopa, 0.5 gm/1.73 sq m, and propranolol, 0.75 mg/kg, were administered orally to 23 children with short stature and 10 children suffering from various disorders. Glucose and insulin tolerance tests and arginine infusions were also utilized in some of these subjects to determine growth hormone (GH) response. Seventeen subjects with short stature had a GH peak greater than 5 ng/ml to the combined levodopa-propranolol provocative test (DPPT). The mean GH peak concentration obtained in this group was 19.6 ± 1.8 (SEM) ng/ml, and in 94.1% of these children the peak was obtained at either 30, 60, or 90 minutes following the administration of the two drugs. Six subjects with short stature who failed to respond to the DPPT had abnormal responses to at least two other stimulatory tests and were classified as GH-deficient. Two subjects among the ten suffering from various disorders failed to respond to the DPPT. The first was a case of chromophobe adenoma of the pituitary gland with primary amenorrhea and luteinizing hormone deficiency, and the second a case of Hand-Schüller-Christian disease. The DPPT appears to be a reliable, safe, and easy-to-perform test to determine GH reserve.

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Mosaic triple X syndrome in a female with primary amenorrhea

Indian Journal of Human Genetics ◽

10.4103/0971-6866.100790 ◽

2012 ◽

Vol 18 (2) ◽

pp. 246 ◽

Cited By ~ 2

Author(s):

A Venkateshwari ◽

A Srilekha ◽

M Sujatha ◽

A Jyothy ◽

K Srimanjari ◽

...

Keyword(s):

Primary Amenorrhea ◽

Triple X Syndrome

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MON-241 Dome Shaped Pituitary Enlargement Warrants Detailed Endocrine Evaluation Prior to Neuro-Surgical Intervention: Case Series & Analysis

Journal of the Endocrine Society ◽

10.1210/jendso/bvaa046.1242 ◽

2020 ◽

Vol 4 (Supplement_1) ◽

Author(s):

Satyam Chakraborty

Keyword(s):

Short Stature ◽

Surgical Intervention ◽

Case Series ◽

Primary Amenorrhea ◽

Conservative Approach ◽

Post Contrast ◽

Optic Chiasma ◽

Imaging Characteristics ◽

Pituitary Enlargement ◽

Severe Short Stature

Abstract Pituitary tumours diagnosed incidentally on imaging as sellar-suprasellar masses, often undergo unwarranted Neuro-surgical intervention, often leading to the requirement of life-long post-operative hormone supplementation. Although surgery remains the primary modality in most of the Functional (except Prolactinomas) & Non-Functional Pituitary Macro-Adenomas abutting the Optic Chiasma, Several cases are feed-back adenomas due to untreated Hypothyroidism or Drug- Induced Hyperprolactinemia which require a conservative approach. These Pituitary enlargements may not only be Sellar but also at times extend Supra-sellar mimicking a surgically resctable one. In adolescents they come with a constellation of features like severe short stature & primary Amenorrhea in Females. Noteworthy that these symptoms appear commonly in both groups of surgically resectable masses as well as the secondary pituitary enlargements which need conservative approach, thus often resulting in inadvertent Surgical misadventures. We report 3 cases of Adolescent females referred from peripheral centre to the Neuro-Surgical take of our Institute. Both the females had severe short stature with primary amenorrhea. The imaging characteristics in all the three patients were unique in the sense that they had uniform enlargement of the entire Pituitary extending supra-sellar without any focal hypo-intensities without any obvious mid-line shift of the Pituitary stalk & enhanced uniformly in Post-Contrast studies. We also observed that the upper margin of the masses had a uniform convexity resembling a “DOME”. Thorough Endocrine work-up revealed severe Untreated Hypothyroidism with S.TSH greater then 100micro IU/ml. The patients were treated conservatively with Levo-thyroxine supplementation. The patients had significant Height gain with menarche in the following 4-6 months of Therapy. S.TSH normalized after 2-3 months of therapy. Repeat imaging after 6 months of therapy revealed normal Pituitary architecture without the presence of any focal lesions or enlargement. Feedback Adenomas of the Pituitary have been depicted in the literature. “DOME” shaped Pituitary enlargement seems quite unique to all Pituitary masses which can be treated with conservative means. Pituitary masses should therefore undergo thorough Endocrine intervention before any Neuro-Surgical intervention is contemplated, specifically when the incidentally discovered masses have a “DOME” shaped symmetrical upward convexity on imaging.

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