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A rare cause for primary amenorrhea: Sporadic perrault syndrome.

Ameen KH, Pinninti R - Indian J Endocrinol Metab (2012)

Bottom Line: Perrault syndrome is a rare autosomal recessive condition affecting both females and males, only females have gonadal dysgenesis associated with sensorineural deafness which is present in both sexes.There are very few case reports describing the condition, even lesser reports of association with marfanoid habitus.We report this case for its rarity and add to the spectrum of the disease that remains undetermined.

View Article: PubMed Central - PubMed

Affiliation: Department of General Medicine, Government Stanley Hospital, Chennai, India.

ABSTRACT
Gonadal (ovarian) dysgenesis with normal chromosomes (46, XX), XX female gonadal dysgenesis (XX-GD) is a rare genetically heterogeneous disorder. In 1951, Perrault reported the association of gonadal dysgenesis and deafness, now referred to as Perrault syndrome. Perrault syndrome is a rare autosomal recessive condition affecting both females and males, only females have gonadal dysgenesis associated with sensorineural deafness which is present in both sexes. We present a case of Sporadic Perrault syndrome in a 35-year-old female with primary amenorrhea, sensorineural deafness, marfanoid features, and normal karyotype. There are very few case reports describing the condition, even lesser reports of association with marfanoid habitus. We report this case for its rarity and add to the spectrum of the disease that remains undetermined.

No MeSH data available.


Related in: MedlinePlus

Arachnodactyly with high metacarpal index MCI
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Figure 2: Arachnodactyly with high metacarpal index MCI

Mentions: A 35-year-old female patient presented to our medical outpatient department with complaints of palpitations and chest pain of 6 months duration. The patient had paroxysmal episodes of palpitations that lasted few minutes, resolved spontaneously not associated with exertion or other aggravating factors. The patient had chest pain that was retro-sternal, intermittent not related to exertion and resolved spontaneously. Frequency of patient's complaints had increased from 3 weeks prior to presentation. There was no history of significant medical illness in the past. She was born out of a nonconsanguineous marriage. She had an elder brother. There is no history of significant medical illness in the family. Menstrual history revealed that she never attained menarche. On examination, she had dolicocephaly, arachnodactyly, high arched palate, she was tall statured (height 165 cm; Figure 1), her arm span (176 cm) was more than her height, reduced upper-to-lower body segment ratio (0.83), and she had arachnodactyly with high metacarpal index [Figure 2], positive wrist and thumb sign. The patient had underdeveloped rudimentary breasts (Tanner stage 2), sparse pubic hair (Tanner stage 1), and absent axillary hair. She had normal external genitalia. Her vitals were normal. Cardiovascular examination revealed mid-systolic click with a late systolic murmur, other systems were essentially normal. Blood investigations showed normal hemogram. Her blood glucose, renal function tests, liver function tests, and serum electrolytes were within normal limits. Ultrasonogram of abdomen and pelvis showed atrophic uterus and streak ovaries. Echocardiogram ECHO/Doppler revealed prolapse of anterior mitral leaflet, mitral regurgitation, and normal left ventricular systolic function. The patient was further evaluated for possible causes of primary amenorrhea [Table 1]. She had low levels of estrogen (estradiol, 10 pg/ mL; normal 15–200 pg/ mL), serum testosterone (0.16 pg/mL, normal 0.6–6.8 pg/ mL), and progesterone (0.56 ng/mL). She had elevated levels of gonodotropins, follicle stimulating hormone (FSH, 101.3 IU/L), and luteinizing hormone (LH, 31.6 IU/L). Serum prolactin (12 ng/mL, normal 0–20 ng/ mL), and thyroid function tests (Free T4 – 9.2 mcg/ dL, normal 4.6– 11.2 mcg/dL; TSH – 3.49 mU/L, normal 0.4–5.0 mU/L) were normal. Her karyotype was normal (46XX). She was diagnosed with primary gonadal (ovarian) dysgenesis with Marfanoid features. Further audiometric evidence of mild bilateral sensorineural deafness completed the diagnosis of Perrault syndrome.


A rare cause for primary amenorrhea: Sporadic perrault syndrome.

Ameen KH, Pinninti R - Indian J Endocrinol Metab (2012)

Arachnodactyly with high metacarpal index MCI
© Copyright Policy - open-access
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC3475920&req=5

Figure 2: Arachnodactyly with high metacarpal index MCI
Mentions: A 35-year-old female patient presented to our medical outpatient department with complaints of palpitations and chest pain of 6 months duration. The patient had paroxysmal episodes of palpitations that lasted few minutes, resolved spontaneously not associated with exertion or other aggravating factors. The patient had chest pain that was retro-sternal, intermittent not related to exertion and resolved spontaneously. Frequency of patient's complaints had increased from 3 weeks prior to presentation. There was no history of significant medical illness in the past. She was born out of a nonconsanguineous marriage. She had an elder brother. There is no history of significant medical illness in the family. Menstrual history revealed that she never attained menarche. On examination, she had dolicocephaly, arachnodactyly, high arched palate, she was tall statured (height 165 cm; Figure 1), her arm span (176 cm) was more than her height, reduced upper-to-lower body segment ratio (0.83), and she had arachnodactyly with high metacarpal index [Figure 2], positive wrist and thumb sign. The patient had underdeveloped rudimentary breasts (Tanner stage 2), sparse pubic hair (Tanner stage 1), and absent axillary hair. She had normal external genitalia. Her vitals were normal. Cardiovascular examination revealed mid-systolic click with a late systolic murmur, other systems were essentially normal. Blood investigations showed normal hemogram. Her blood glucose, renal function tests, liver function tests, and serum electrolytes were within normal limits. Ultrasonogram of abdomen and pelvis showed atrophic uterus and streak ovaries. Echocardiogram ECHO/Doppler revealed prolapse of anterior mitral leaflet, mitral regurgitation, and normal left ventricular systolic function. The patient was further evaluated for possible causes of primary amenorrhea [Table 1]. She had low levels of estrogen (estradiol, 10 pg/ mL; normal 15–200 pg/ mL), serum testosterone (0.16 pg/mL, normal 0.6–6.8 pg/ mL), and progesterone (0.56 ng/mL). She had elevated levels of gonodotropins, follicle stimulating hormone (FSH, 101.3 IU/L), and luteinizing hormone (LH, 31.6 IU/L). Serum prolactin (12 ng/mL, normal 0–20 ng/ mL), and thyroid function tests (Free T4 – 9.2 mcg/ dL, normal 4.6– 11.2 mcg/dL; TSH – 3.49 mU/L, normal 0.4–5.0 mU/L) were normal. Her karyotype was normal (46XX). She was diagnosed with primary gonadal (ovarian) dysgenesis with Marfanoid features. Further audiometric evidence of mild bilateral sensorineural deafness completed the diagnosis of Perrault syndrome.

Bottom Line: Perrault syndrome is a rare autosomal recessive condition affecting both females and males, only females have gonadal dysgenesis associated with sensorineural deafness which is present in both sexes.There are very few case reports describing the condition, even lesser reports of association with marfanoid habitus.We report this case for its rarity and add to the spectrum of the disease that remains undetermined.

View Article: PubMed Central - PubMed

Affiliation: Department of General Medicine, Government Stanley Hospital, Chennai, India.

ABSTRACT
Gonadal (ovarian) dysgenesis with normal chromosomes (46, XX), XX female gonadal dysgenesis (XX-GD) is a rare genetically heterogeneous disorder. In 1951, Perrault reported the association of gonadal dysgenesis and deafness, now referred to as Perrault syndrome. Perrault syndrome is a rare autosomal recessive condition affecting both females and males, only females have gonadal dysgenesis associated with sensorineural deafness which is present in both sexes. We present a case of Sporadic Perrault syndrome in a 35-year-old female with primary amenorrhea, sensorineural deafness, marfanoid features, and normal karyotype. There are very few case reports describing the condition, even lesser reports of association with marfanoid habitus. We report this case for its rarity and add to the spectrum of the disease that remains undetermined.

No MeSH data available.


Related in: MedlinePlus